Editor's Choice Academic Journal Main Category: Obesity / Weight Loss / Fitness Also Included In: Genetics;Neurology / Neuroscience Article Date: 19 Mar 2012 - 11:00 PDT

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The researchers found that the mutation in the Bdnf (brain-derived neurotrophic factor) gene undermines brain neurons' ability to pass insulin and leptin chemical signals through the brain. Their study involved mice.

When a human being has eaten, leptin and insulin are released into the body and literally tell the body to stop consuming food. However, if the signals do not reach parts of the brain they are supposed to - within the hypothalamus - the person will continue feeling hungry, and will carry on eating.

Baoji Xu, Ph.D., said:

Dr. Xu has been carrying out research on the Bdnf gene for years. He explains that this gene produces a growth factor that regulates how neurons communicate with each other.

Xu has demonstrated that during development, BDNF plays a major role in the formation and maturity of synapses. A synapse is the point where two nerve cells connect; a specialized junction at which a neuron (nerve cell) communicates with a target cell - this is done via chemical signals. The Bdnf gene produces one short and one long transcript. When the long-form BdnfN transcript is not there, the growth factor BDNF is only produced in the body of the neuron, but not in its dendrites. This results in the production of too many immature synapses, which undermines learning and memory in mice.

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Gene Mutation Causes Uncontrolled Obesity

16-02-2012 13:37 National Advisory Council for Human Genome Research National Institutes of Health February 13-14, 2012 More: http://www.genome.gov

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Genomic Medicine Pilot Demonstration Projects - Teri Manolio - Video

A single gene's effect on the brain can result in non-stop eating, research has shown.

Scientists believe the "gluttony gene" may be responsible for cases of obesity caused by out-of-control appetite. The Bdnf gene variant was studied in mice. It was found to prevent brain neurons from transmitting signals that tell the body it has eaten enough.

"This discovery may open up novel strategies to help the brain control body weight," said lead researcher Dr Baoki Xu, from Georgetown University Medical Centre in the US.

Hunger and satiety, the sensation of "feeling full", are governed by a complex balance of hormonal and neuronal signals. Two hormones in particular, leptin and insulin, released in the body after a meal play a key role.

Their chemical signals activate neurons in the hypothalamus region of the brain that trigger satiety. But if the connection is not made, the craving for food continues.

"Short" versions of the Bdnf gene block the leptin and insulin signals and prevent the "stop eating" message passing through the brain to the correct appetite-suppressing locations, say the scientists.

The research is reported online in the journal Nature Medicine.

Bdnf makes a protein that is synthesised in dendrites, the branch-like "fingers" that project from nerve cells. Dendrites carry the synapses that neurons use to communicate to each other.

"If there is a problem with the Bdnf gene, neurons can't talk to each other and the leptin and insulin signals are ineffective, and appetite is not modified," said Dr Xu.

Previous work by Dr Xu has shown that Bdnf is important for the formation and maturation of synapses during development. Mice born without the correct "long" version of the gene suffer impaired learning and memory. They also grow to be severely obese.

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Scientists 'discover gluttony gene'

18 March 2012 Last updated at 14:02 ET

Researchers believe they have identified why a mutation in a particular gene can lead to obesity.

Mouse experiments suggested the body's message to "stop eating" was blocked if the animals had the mutation.

The study, published in Nature Medicine, said the brain's response to appetite hormones was being disrupted.

The Georgetown University Medical Center researchers hope their findings could lead to new ways to control weight.

Many genes have been linked to obesity, one of them - brain-derived neurotrophic factor gene - has been shown to play a role in putting on weight in animal and some human studies.

However, scientists at the Georgetown University Medical Center said the explanation for this link was unknown.

In studies on mice which had been genetically modified to have the mutation, the mice consumed up to 80% more food than normal.

After a meal, hormones such as insulin and leptin should tell the brain that the body is full and should stop eating. The researchers showed that in the mutated mice the message was not being passed on from the hormones in the blood to the correct part of the brain.

One of the researchers Prof Baoji Xu said: "If there is a problem with the BDNF gene, neurons can't talk to each other, and the leptin and insulin signals are ineffective, and appetite is not modified."

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Experts reveal 'fat gene' role

Washington, March 17 (ANI): New biotechnological and chemical methods will facilitate efficient production of chemicals, materials and fuels from renewable natural resources, such as agricultural or industrial waste materials, say researchers.

The Academy of Finland Centre of Excellence (CoE) in White Biotechnology - Green Chemistry Research is focusing on the research and development of microbial cells, or cell factories, for producing new useful compounds from sugars in plant biomass.

These compounds can be used, for example, for manufacturing bioplastics or in medical applications.

"By means of gene technology, we can modify microbial metabolism and thereby produce organic acids for a wide range of industrial applications. They can be used, among other things, for manufacturing new plastic and textile materials, or packaging technologies," explained Merja Penttila, Research Professor and Director of the Centre of Excellence from VTT Technical Research Centre of Finland.

New methods play a key role when various industries are developing environmentally friendly and energy-efficient production processes.

Use of renewable natural resources, such as agricultural or industrial waste materials, to replace oil-based raw materials will make industries less dependent of fossil raw materials and, consequently, reduce carbon dioxide emissions into the atmosphere.

The CoE also develops highly sensitive measuring methods and investigates microbial cell functions at molecular level.

"We need this information to be able to develop efficient bioprocesses for the future. For instance, we build up new micro- and nanoscale instruments for measuring and controlling microbial productivity in bioreactors during production," said Penttila.

The metabolism of microbes is modified so that they will convert plant biomass sugars into sugar acids and their derivatives.

These compounds can potentially serve as raw materials for new types of polyesters, whose properties - such as water solubility and extremely rapid degradation into natural substances - can be used, for example, in medicine.

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Soon, gene technology to produce novel plastics and textiles from waste

A team of Stanford researchers has unveiled the most detailed biological profile of a human being done so far: a peek at one man's genetic foundation, along with snapshots, taken dozens of times over the course of a year, of the millions of proteins and other molecules that are in constant flux in his body.

In a stroke of shocking good luck - for the scientists, if not necessarily the patient - the profile subject developed Type 2 diabetes during the study, allowing researchers to follow in real time the molecular changes that took place as the illness progressed.

It also allowed the subject, Stanford geneticist Michael Snyder, to catch his diabetes early and stop it, most likely months or even years before he would have been diagnosed without the genetic profiling.

"This is the first time someone's actually analyzed the genome of a healthy person, predicted disease risk, and then by following him, actually saw a disease develop," said Snyder, who in addition to being the subject of the study was the senior author.

Snyder's profile and an analysis of the results were published today in the journal Cell. Snyder, chairman of the genetics department at Stanford, is not named in the published study because of privacy rules, but he volunteered to identify himself.

The research provides some of the first proof that detailed genetic profiling - beyond just DNA sequencing - could be used someday not just to predict an individual's chances of developing disease, but also to identify the smallest molecular changes that show when a person starts to become ill, said experts in personalized medicine.

The first human genome - a map of all of the DNA in a human cell - was announced in 2000. Seven or eight years later geneticists began mapping the genomes of specific individuals. Such personal genomic sequencing is expected to become widely available this year, at a cost of several thousand dollars.

Using genetic information to help diagnose and treat patients is still a very new field, although it's growing rapidly. Certain key genes have been found to greatly increase the risk of breast cancer, for example, or the deadly Huntington's disease, and doctors will regularly test for those genes when someone is diagnosed with an illness or when a close family member is known to have a disease.

But for most people, DNA sequencing and other biological profiling isn't yet useful - subjects would end up with a lot of unwieldy information that is mostly beyond modern scientific understanding or far too expensive to analyze.

"What they did (at Stanford) is much more interesting from a scientific basis than a practical basis," said Dr. David Witt, a medical geneticist at Kaiser San Jose. "And that gets to the heart of personalized medicine: It's not ready for prime time."

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Stanford gene researchers see diabetes develop

18-02-2012 15:05 There is a cure for cancer, but you, your mother, your child or husband are not allowed to have it, because someone needs to make money off of you and your loved ones death - okay? Under the capitalist sun, there is nothing sacred. Money talks. - Li Chuan Chen, PhD from "Cancer is a Serious Business" Burzynski - Cancer Is Serious Business - BurzynskiMovie.com http://www.youtube.com ... er&list=UL Burzynski, the Movie is the story of a medical doctor and Ph.D biochemist named Dr. Stanislaw Burzynski who won the largest, and possibly the most convoluted and intriguing legal battle against the Food & Drug Administration in American history. His victorious battles with the United States government were centered around Dr. Burzynski's gene-targeted cancer medicines he discovered in the 1970's called Antineoplastons, which have currently completed Phase II FDA-supervised clinical trials in 2009 and could begin the final phase of FDA testing in 2011--barring the ability to raise the required $300 million to fund the final phase of FDA clinical trials. When Antineoplastons are approved, it will mark the first time in history a single scientist, not a pharmaceutical company, will hold the exclusive patent and distribution rights on a paradigm-shifting medical breakthrough. Antineoplastons are responsible for curing some of the most incurable forms of terminal cancer. Various cancer survivors are presented in the film who chose these medicines instead of surgery, chemotherapy or radiation ...

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2012 - The Profit of Your Death - Video

Public release date: 15-Mar-2012 [ | E-mail | Share ]

Contact: Arantxa Mena comunicacio@idibell.cat IDIBELL-Bellvitge Biomedical Research Institute

Retinoic acid (vitamin A) and steroids are hormones found in our body that protect against oxidative stress, reduce inflammation and are involved in cellular differentiation processes. One of the characteristics of tumours is that their cells have lost the ability to differentiate; therefore these hormones have useful properties to prevent cancer. Currently, retinoic acid and steroids are being used to treat some types of leukaemia.

A study led by the research group on Genes and Cancer of the Bellvitge Biomedical Research Institute (IDIBELL) has shown that the loss of BRG1 gene implies a lack of response of cells to these hormones, and therefore the tumour may continue growing. Study results have been published in the journal EMBO Molecular Medicine.

BRG1 gene

The IDIBELL research group on Genes and Cancer led by Montse Sanchez-Cespedes discovered some years ago that the BRG1 gene, a tumour suppressor, is inactivated in non-small cell lung cancer by genetic mutations. "The BRG1 protein is part of a chromatin remodelling complex that regulates the expression of several genes", explains the researcher, "and it is related to the differentiation of lung cells, allowing cells response to certain hormones and environment vitamins like vitamin A or steroids."

When BRG1 is mutated and therefore inactive, tumour cells do not respond to the presence of these hormones and they continue growing and spreading. For this reason, these types of tumours are refractory to the treatment with these substances.

Clinic Application

"At the moment", says Montse Sanchez-Cespedes, "we are not able to restore the functionality of a tumour suppressor gene as BRG1 in patients. Therefore, we are still far from a therapeutic application but this discovery enables us to understand better the biology of tumours. What we will try to do in the immediate future is to look for agents that specifically destroy the cells with mutated BRG1, following the strategy of lethal synthetics".

In any case, this finding it can be useful in advancing personalized medicine, because "it explains why lung cancer patients are resistant to these treatments and may serve to rule out therapies with lipid-derived hormones in patients with BRG1 mutations, not just in lung cancer but also in breast and prostate, among others."

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BRG1 mutations confer resistance to hormones in lung cancer

Newswise Infants with Batten disease, a rare but fatal neurological disorder, appear healthy at birth. But within a few short years, the illness takes a heavy toll, leaving children blind, speechless and paralyzed. Most die by age 5.

There are no effective treatments for the disease, which can also strike older children. And several therapeutic approaches, evaluated in mouse models and in young children, have produced disappointing results.

But now, working in mice with the infantile form of Batten disease, scientists at Washington University School of Medicine in St. Louis and Kings College London have discovered dramatic improvements in life span and motor function by treating the animals with gene therapy and bone marrow transplants.

The results are surprising, the researchers say, because the combination therapy is far more effective than either treatment alone. Gene therapy was moderately effective in the mice, and bone marrow transplants provided no benefit, but together the two treatments created a striking synergy.

The research is reported online in the Annals of Neurology.

Until now, this disease has been refractory to every therapy that has been thrown at it, says senior author Mark Sands, PhD, professor of medicine and of genetics at the School of Medicine. The results are the most hopeful to date, and they open up a new avenue of research to find effective therapies to fight this devastating disease.

The combination therapy did not cure the disease, the scientists caution, but mice that received both treatments experienced significant, lasting benefits.

Mice that got gene therapy and a bone marrow transplant lived nearly 18.5 months, more than double the lifespan of untreated mice with the disease. (Healthy laboratory mice live about 24 months.) And for a significant portion of their lives, motor skills in mice that got both therapies were indistinguishable from those in normal, healthy mice.

While bone marrow transplants carry significant risks, especially in children, the researchers say they may be able to combine gene therapy with another treatment to achieve the same results. This same approach potentially could be used to treat other forms of Batten disease.

Batten disease is an inherited genetic disorder that strikes fewer than five of every 100,000 U.S. children but is slightly more common in northern Europe. There are several forms of the disease, diagnosed at different ages, and all are related to the inability of cells to break down and recycle proteins.

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Combination Treatment in Mice Shows Promise for Fatal Neurological Disorder in Kids

WEDNESDAY, March 14 (HealthDay News) -- By analyzing gene mutations in patients with acute myeloid leukemia, researchers were able to more accurately predict which ones had the best chances of going into remission, and which ones would respond well to standard treatments or needed more aggressive treatment.

Doctors from Memorial Sloan-Kettering Cancer Center in New York City analyzed 18 genes from about 500 patients with acute myeloid leukemia (AML). AML is a cancer of the bone marrow, or the soft tissue that forms blood cells.

The patients had previously taken part in a clinical trial for a chemotherapy drug, daunorubicin, and researchers knew how everyone had fared in that study.

In the new analysis, the scientists used the latest gene-sequencing technology to determine what mutations were present in the cancer cells of the patients, and whether the presence of those mutations predicted how well people did.

They found that certain combinations of mutations were associated with both better or worse chances of survival, and that those genetic predictors could be used to determine whether patients would respond to the standard dose of daunorubicin or whether they should receive a higher, more aggressive dose of the drug.

Currently, some cancer hospitals already do a limited genetic analysis in leukemia patients to look for three mutations that are associated with a low or high risk of relapse, experts explained.

But about 60 percent of people fall into the intermediate category, said senior study author Dr. Ross Levine, an associate member in the Human Oncology and Pathogenesis Program at Sloan-Kettering. That leaves oncologists with a lot of uncertainty about how aggressively to treat those patients and what to tell them about their prognosis.

"If you know patients have a high chance of cure, you would pursue a standard therapeutic route," Levine said. "If you have a patient with a low chance of cure, you might consider more aggressive or investigational therapies."

Using the information from the more extensive analysis, about half of the patients who were in the intermediate risk could be put into a low- or high-risk category, Levine said.

"What we found was by studying the DNA of patients with leukemia and classifying all 500 patients, you could identify a set of mutations, which allows us to more accurately separate those at high risk of relapse, at intermediate risk of relapse and at low risk of relapse," Levine said. "Specifically, risk stratification with more extensive mutational profiling better predicts outcome than current classification schema."

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Detailed Gene Scan Might Help Guide Leukemia Treatment

Public release date: 13-Mar-2012 [ | E-mail | Share ]

Contact: Juan J. Gmez juanj.gomez@cnio.es 34-917-328-000-4060 Centro Nacional de Investigaciones Oncologicas (CNIO)

Can a gene simultaneously protect against cancer and favor its growth? Researchers at the Spanish National Cancer Research Centre have discovered a gene with this double-edged property and suspect there may be many more that share it. In the words of Oscar Fernandez Capetillo, head of the group responsible for the study, this gene "can be both Dr. Jekyll and Mr. Hyde, in that it can either protect us against the appearance of tumors or promote tumor growth".

The study, appears this week in the Journal of Experimental Medicine, with Andres J. Lopez-Contreras and Paula Gutierrez Martinez as first authors, focuses on the activity of Chk1, a gene known for its tumour suppressing effect. It is what Fernandez-Capetillo calls "a genome guardian, a gene that keeps our genome free of mutations and, therefore, protects against the development of tumours".

The team wished to ascertain whether the tumour-protective effect of Chk1 was magnified in organisms with a larger quantity of the protein it codes for, so they created a mouse with three copies of the gene instead of the normal two. They then extracted and cultured the animal's cells and turned them cancerous with the aid of other genes. What they observed confounded all expectations: the cells became malignant more easily when carrying an extra copy of Chk1.

The reason for this paradox is that Chk1 has a beneficial effect on healthy cells, but also benefits tumour cells once they have established themselves in the body.

The dual role of Chk1

"Initially, Chk1 prevents the appearance of tumours, by limiting the spontaneous mutations that take place in our cells", remarks Fernandez Capetillo. "This is the Dr. Jekyll side. However, advanced tumours exhibit extensive damage to their DNA and it is here that Chk1 comes to the tumour's aid by reducing the damage built up in its genome", he continues.

Chk1 works by protecting against replicative stress, a kind of damage that occurs in cells' genetic material as they divide. Some tumours indeed suffer continuous lesions in their genome due to their high division rates.

"The presence of 'genome guardians' like Chk1 may favour the growth of this kind of tumour by lessening its lesion load", explains Lopez-Contreras.

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CNIO researchers discover that a gene known to protect against cancer can also promote tumor growth

(Reuters) - Advances in genetic profiling are paving the way for more precise, and effective, treatment of the aggressive bone marrow cancer known as acute mylogenous leukemia, or AML, according to new research.

Two studies, published in the latest edition of the New England Journal of Medicine, show that genetic testing can guide doctors in how best to use current therapies as well as identify new drug targets.

"As lots of studies identify new alterations in genes in leukemia and other cancers, we need to begin to understand how these alterations in DNA can predict outcomes and determine differences in treatment," said Dr. Ross Levine of Memorial Sloan-Kettering Cancer Center in New York, the lead author of one of the studies.

Such personalized therapy is considered the new frontier for medical practice, and hopes for its success underpin a $5.7 billion hostile bid by drugmaker Roche Holding for gene sequencing company Illumina.

The second study, from Washington University in St. Louis, found that 85 percent of bone marrow cells in patients with myelodysplastic syndrome, a blood-related disorder that can precede AML, were linked to mutations in progressive cancer.

The Sloan-Kettering study analyzed bone marrow samples from 502 AML patients for mutations in 18 genes associated with the disease. The researchers were able to categorize two-thirds of the patients into groups clearly defined by their survival chances.

The study found that high-dose chemotherapy improved the rate of survival for patients with three specific genetic mutations, compared with standard-dose chemo.

It also showed that genetic profiling makes it possible to more precisely determine which patients are most likely to have their leukemia return after treatment.

AML is typically cured in about 40 percent of adults between the ages of 18 and 60, according to Levine.

"We were able to identify a very large subset of patients who need new therapies," he said. "Another set was found to do incredibly well with existing therapies, and that is very informative."

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Leukemia gene mutations linked to survival odds

MEMPHIS, Tenn., March 13, 2012 /PRNewswire/ --Researchers have identified the first gene mutation associated with a chronic and often fatal form of neuroblastoma that typically strikes adolescents and young adults. The finding provides the first clue about the genetic basis of the long-recognized but poorly understood link between treatment outcome and age at diagnosis.

To view the multimedia assets associated with this release, please click: http://www.multivu.com/mnr/52992-st-jude-pediatric-cancer-genome-project-neuroblastoma-research

The study involved 104 infants, children and young adults with advanced neuroblastoma, a cancer of the sympathetic nervous system. Investigators discovered the ATRX gene was mutated only in patients age 5 and older. The alterations occurred most often in patients age 12 and older. These older patients were also more likely than their younger counterparts to have a chronic form of neuroblastoma and die years after their disease is diagnosed.

The findings suggest that ATRX mutations might represent a new subtype of neuroblastoma that is more common in older children and young adults. The work is from the St. Jude Children's Research Hospital Washington University Pediatric Cancer Genome Project (PCGP). The study appears in the March 14 edition of the Journal of the American Medical Association.

If validated, the results may change the way doctors think about this cancer, said co-author Richard Wilson, Ph.D., director of The Genome Institute at Washington University School of Medicine in St. Louis. "This suggests we may need to think about different treatment strategies for patients depending on whether or not they have the ATRX mutation," he said.

Neuroblastoma accounts for 7 to 10 percent of all childhood cancers and about 15 percent of pediatric cancer deaths. In about 50 percent of patients, the disease has already spread when the cancer is discovered.

For patients whose disease has spread, age has long been a powerful but perplexing predictor of treatment outcome. Currently 88 percent of patients age 18 months and younger become long-term survivors, compared to 49 percent of those ages 18 months through 11 years and only 10 percent of patients age 12 and older.

"Until now there was no understanding of the basis of this age-related risk, and no treatment has had an impact on the outcome," said Michael Dyer, Ph.D., a member of the St. Jude Department of Developmental Neurobiology and a Howard Hughes Medical Institute Early Career Scientist. He is the study's corresponding author. "The mutation we found is associated with patients in the older age group, but it also identifies for the first time a subset of younger patients who turned out to have an indolent form of neuroblastoma."

Researchers must now determine whether tumors with ATRX mutations behave the same way in both children and young adults, following a similarly indolent but often deadly course, said Nai-Kong Cheung, M.D., Ph.D., first author and head of the Neuroblastoma Program at New York's Memorial Sloan-Kettering Cancer Center.

St. Jude investigators have begun screening the hospital's library of federally approved drugs looking for evidence of activity against neuroblastoma cells with the ATRX mutation. Availability of more targeted therapies would likely spur efforts for early identification of patients with the ATRX mutation who have a chronic form of neuroblastoma and are unlikely to benefit from current therapies.

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Genome Sequencing Initiative Links Altered Gene to Age-Related Neuroblastoma Risk

ScienceDaily (Mar. 13, 2012) Can a gene simultaneously protect against cancer and favor its growth? Researchers at the Spanish National Cancer Research Centre have discovered a gene with this double-edged property and suspect there may be many more that share it. In the words of Oscar Fernandez Capetillo, head of the group responsible for the study, this gene "can be both Dr. Jekyll and Mr. Hyde, in that it can either protect us against the appearance of tumors or promote tumor growth."

The study, appears this week in the Journal of Experimental Medicine, with Andres J. Lopez-Contreras and Paula Gutierrez Martinez as first authors, focuses on the activity of Chk1, a gene known for its tumour suppressing effect. It is what Fernandez-Capetillo calls "a genome guardian, a gene that keeps our genome free of mutations and, therefore, protects against the development of tumours."

The team wished to ascertain whether the tumour-protective effect of Chk1 was magnified in organisms with a larger quantity of the protein it codes for, so they created a mouse with three copies of the gene instead of the normal two. They then extracted and cultured the animal's cells and turned them cancerous with the aid of other genes. What they observed confounded all expectations: the cells became malignant more easily when carrying an extra copy of Chk1.

The reason for this paradox is that Chk1 has a beneficial effect on healthy cells, but also benefits tumour cells once they have established themselves in the body.

The dual role of Chk1

"Initially, Chk1 prevents the appearance of tumours, by limiting the spontaneous mutations that take place in our cells," remarks Fernandez Capetillo. "This is the Dr. Jekyll side. However, advanced tumours exhibit extensive damage to their DNA and it is here that Chk1 comes to the tumour's aid by reducing the damage built up in its genome," he continues.

Chk1 works by protecting against replicative stress, a kind of damage that occurs in cells' genetic material as they divide. Some tumours indeed suffer continuous lesions in their genome due to their high division rates.

"The presence of 'genome guardians' like Chk1 may favour the growth of this kind of tumour by lessening its lesion load," explains Lopez-Contreras.

"This study sheds light on why Chk1 is overexpressed in many tumours, when we would intuitively suppose that what favours the development of cancer is the loss of protective genes," the scientist concludes.

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Gene known to protect against cancer can also promote tumor growth

Washington, March 14 (ANI): A gene that can simultaneously protect against cancer and favour its growth has been identified.

Researchers at the Spanish National Cancer Research Centre who made the discovery suspect there may be many more genes that share this double-edged property.

In the words of Oscar Fernandez Capetillo, head of the group responsible for the study, this gene "can be both Dr. Jekyll and Mr. Hyde, in that it can either protect us against the appearance of tumours or promote tumour growth".

The study co-authored by Andre's J. Lopez-Contreras and Paula Gutierrez Martinez, focuses on the activity of Chk1, a gene known for its tumour suppressing effect.

It is what Fernandez-Capetillo calls "a genome guardian, a gene that keeps our genome free of mutations and, therefore, protects against the development of tumours".

The team wished to ascertain whether the tumour-protective effect of Chk1 was magnified in organisms with a larger quantity of the protein it codes for, so they created a mouse with three copies of the gene instead of the normal two.

They then extracted and cultured the animal's cells and turned them cancerous with the aid of other genes. What they observed confounded all expectations: the cells became malignant more easily when carrying an extra copy of Chk1.

The reason for this paradox is that Chk1 has a beneficial effect on healthy cells, but also benefits tumour cells once they have established themselves in the body.

"Initially, Chk1 prevents the appearance of tumours, by limiting the spontaneous mutations that take place in our cells," explained Fernandez Capetillo.

"This is the Dr. Jekyll side. However, advanced tumours exhibit extensive damage to their DNA and it is here that Chk1 comes to the tumour's aid by reducing the damage built up in its genome," he said.

Read this article:
Gene known to protect against cancer can also promote tumour growth

MOUNTAIN VIEW, CALIF. In Silicon Valley, the line between computing and biology has begun to blur in a way that could have enormous consequences for human longevity.

Bill Banyai, an optical physicist at Complete Genomics, has helped make that happen. When he began developing a gene sequencing machine, he relied heavily on his background at two computer networking startup companies. His digital expertise was essential in designing a factory that automated and greatly lowered the cost of mapping the three billion base pairs that form the human genome.

The promise is that low-cost gene sequencing will lead to a new era of personalized medicine, yielding new approaches for treating cancers and other serious diseases. The arrival of such cures has been glacial, however, although the human genome was originally sequenced more than a decade ago.

Now that is changing, in large part because of the same semiconductor industry manufacturing trends that opened up consumer devices such as the PC and the smartphone: exponential increases in processing power and transistor density are accompanied by costs that fall at an accelerating rate.

As a result, both new understanding and new medicines will arrive at a quickening pace, according to the biologists and computer scientists.

For all of human history, humans have not had the readout of the software that makes them alive, said Larry Smarr, director of the California Institute of Telecommunications and Information Technology, a research centre that is jointly operated by the University of California, San Diego, and the University of California, Irvine.

Once you make the transition from a data poor to data rich environment, everything changes, said Smarr, who is a member of the Complete Genomics scientific advisory board.

Complete Genomics, based in Mountain View, is one of more than three dozen firms hastening to push the cost of sequencing an entire human genome below $1,000. The challenge is part biology, part chemistry, part computing, and in Complete Genomics case, part computer networking.

Complete Genomics is a classic Silicon Valley startup story. Even the gene sequencing machines, which are housed in a 4,000-square-foot room bathed in an eerie blue light, appear more like a traditional data centre than a biology lab.

In 2005, when Clifford Reid, a successful Silicon Valley software entrepreneur, began to assemble his team, he approached Banyai and asked if he was interested in joining a gene sequencing startup. Reid, who was also trained in physics and math, had spent a year as an entrepreneur-in-residence at the Massachusetts Institute of Technology, where he had become a convert to bioinformatics, the application of computer science and information technologies to biology and medicine.

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Gene sequencing falls to $5,000

Published: March. 12, 2012 at 9:30 PM

LOS ANGELES, March 12 (UPI) -- U.S. scientists say they've identified, for the first time, a way to fix mutations in human DNA, a finding with implications for treating a host of diseases.

Currently, there is no way to successfully repair or compensate for these mutations in the human mitochondrial genome, implicated in neuromuscular diseases, metabolic defects and aging, researchers at UCLA said.

Scientists at the UCLA stem cell center, and the departments of chemistry and biochemistry and pathology and laboratory medicine, said targeting corrective, or messenger RNAs may correct mutations in human mitochondrial DNA.

RNA molecules play an active role in cells by catalyzing biological reactions, controlling gene expression and directing the synthesis of proteins.

"I think this is a finding that could change the field," Dr. Michael Teitell, a professor of pathology and laboratory medicine, said. "We've been looking to do this for a long time and we had a very reasoned approach, but some key steps were missing.

"Now we have developed this method and the next step is to show that what we can do in human cell lines with mutant mitochondria can translate into animal models and, ultimately, into humans."

Mitochondria generate most of the energy supply within a cell and are also are involved in other cellular processes, including signaling, differentiation, death, control of the cell cycle and growth, the researchers said.

The findings could lead to a form of gene therapy by compensating for mutations that cause a wide range of diseases, study co-senior author Koehler.

"This opens up new avenues to understand and develop therapies for mitochondrial diseases," researcher Carla Koehler said. "This has the potential to have a really big impact."

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DNA finding could mean new gene therapies

The AnMed Health Family Medicine Center, the practice site for the AnMed Health Family Medicine Residency Program, recently honored two of its former patients by dedicating its waiting room in their honor. Edison Thomas and his wife, Gene, were patients at the Family Medicine Center for 25 years. The couple was always pleased with the care they received from family medicine residents and faculty. To express their gratitude, the Thomases left a portion of their estate - $63,172 - to the Family Medicine Center. Mr. Thomas's two sisters surprised the Family Medicine Center with a check in October. After renovations, the Family Medicine Center unveiled The Mr. and Mrs. Edison C. Thomas Waiting Room on Feb. 3, 2012. "What a wonderful gesture of appreciation this gift is to recognize the 36 years of family medicine training and compassionate patient care rendered at our program," said Dr. Stoney Abercrombie, director of the AnMed Health Family Medicine Residency Program. Every day patients have the opportunity to give back to AnMed Health in honor of the caregivers who made a difference in their life. To find out how, call the AnMed Health Foundation at 864.512.3477 and ask about the Grateful Patient program. To learn more about planned giving, go online to http://www.anmedhealth.org/ourfoundation.

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AnMed Health Family Medicine Center names waiting room in honor of two former patients

A woman receives cancer treatment

(CBS/AP) BOSTON - Scientists are reporting what could be very bad news for efforts to customize cancer treatment based on each person's genes.

PICTURES: Got cancer? 10 secrets for better decisions

They have discovered big differences from place to place in the same tumor as to which genes are active or mutated. They also found differences in the genetics of the main tumor and places where the cancer has spread.

This means that the single biopsies that doctors rely on to choose drugs are probably not giving a true view of the cancer's biology. It also means that treating cancer won't be as simple as many had hoped.

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By analyzing tumors in unprecedented detail, "we're finding that the deeper you go, the more you find," said one study leader, Dr. Charles Swanton of the Cancer Research UK London Research Institute in England. "It's like going from a black-and-white television with four pixels to a color television with thousands of pixels."

Yet the result is a fuzzier picture of how to treat the disease.

The study is reported in Thursday's New England Journal of Medicine.

It is a reality check for "overoptimism" in the field devoted to conquering cancer with new gene-targeting drugs, Dr. Dan Longo, a deputy editor at the journal, wrote in an editorial.

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Gene differences in tumors making cancer treatment difficult

THURSDAY, March 8 (HealthDay News) -- Researchers have identified five new genetic mutations associated with Crohn's disease in Jews of Eastern European descent (Ashkenazi Jews) and say their findings may help explain why Crohn's is nearly four times more prevalent in this group than in the general population.

Crohn's is an inflammatory bowel disease that causes swelling and irritation in the digestive tract. Symptoms include abdominal pain, diarrhea, rectal bleeding, weight loss, and fever.

Previous research pinpointed 71 genetic variants associated with Crohn's disease risk in people of European ancestry. In this new study, Mount Sinai School of Medicine researchers compared almost 2,000 Ashkenazi Jews with Crohn's disease to another 4,500 Ashkenazi Jews without the disease.

The team found 12 of the known risk variants and also discovered five new genetic risk regions on chromosomes 5q21.1, 2p15, 8q21.11, 10q26.3 and 11q12.1.

"This is the largest study to date, and the first to discover the unique risk factors of Crohn's disease in the Ashkenazi Jewish population," study leader Inga Peter, an associate professor of genetics and genomic sciences, said in a Mount Sinai news release.

"The prevalence of this disease is so much higher in Ashkenazi Jews, and the involvement of genetic variants predominant in this population might help understand why that is," she added.

The researchers also found that the genetic structure of the newly-identified regions associated with Crohn's disease risk in Ashkenazi Jews was much less diverse than that of non-Jewish Europeans.

"Not only did we discover different risk factors for Ashkenazi Jews, but we found that some previously known risk factors are more potent to this population," Peter said. "Armed with this new information, we can begin to analyze the specific signals in order to pinpoint causal genetic mutations, discover why they are malfunctioning, and eventually develop novel treatment approaches."

The study is published March 8 in the online edition of PLoS Genetics.

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Gene Mutations Linked to Crohn's Disease in Ashkenazi Jews