Daily Archives: February 14, 2017

Gene variant identified for Kawasaki disease susceptibility – Science Daily

Posted: February 14, 2017 at 11:51 pm

Gene variant identified for Kawasaki disease susceptibility
Science Daily
"This is the first successful analysis of whole genome sequence from a family that revealed a new gene implicated in KD susceptibility," said senior author Jane C. Burns, MD, professor and director of the Kawasaki Disease Research Center at UC San ...

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OpGen Presents Rapid Acuitas Genetic Test Data at Advances in Genome Biology and Technology Meeting – P&T Community

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OpGen Presents Rapid Acuitas Genetic Test Data at Advances in Genome Biology and Technology Meeting
P&T Community
The data were presented at the Advances in Genome Biology and Technology (AGBT) meeting, which is taking place from February 13-16, 2017 in Hollywood Beach, FL. These preliminary results support OpGen's ongoing genomic and bioinformatics efforts ...

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Diabetes in numbers: the worrying statistics – Nouse

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OVER THE PAST thousand years of medical progress, the human race has seen a slow but steady increase in human longevity. Although the occasional plague, famine or war will lead to a mortality peak in a generation, by and large each new wave of humanity is healthier than the last. But it seems that this encouraging trend is about to change.

image: wikipedia commons

A study published in 2015 revealed that middle-aged white Americans are dying at younger ages than their parents for the first time in decades, and as with all trends, where the US leads, the UK and Europe are certain to follow soon after. In fact, there are many similar studies suggesting that todays children may go on to lead shorter lives than their parents.

To explain these trends, experts have looked at two main factors firstly deaths of despair such as opioid overdoses, suicides and complications from long-term alcohol abuse. In 2015, 52 000 Americans died of drug overdoses alone, more than those who died per annum of HIV/AIDS during the epidemics peak years in the mid 90s. Almost half of these deaths were due to opioid-based drugs, such as heroin or the much stronger synthetic opioid fentanyl. Secondly, a more recent study has linked diabetes to the increase in American mortality. Whilst in 1958 only 0.93 per cent of the US population was diagnosed diabetic, now 7.02 per cent (nearly 30 million people) of the country live with the disease. The number has grown three-fold since the early 1990s, rising with the ever-increasing obesity rates.

Approximately 368 million people on Earth were living with the disease in 2013. Most of these cases are diabetes mellitus type 2. This is what used to be known as adult onset diabetes, to differentiate it from type 1 diabetes, which involves the autoimmune destruction of the insulin producing beta cells in the pancreas and usually begins in childhood. Type 2 diabetes now makes up 90 per cent of all diabetes diagnoses in Europe and is seen increasingly in young adults and children.

Type 2 diabetes is associated with a ten-year reduction in life expectancy, and is thought to be an under-reported cause of death, likely affecting life expectancy trends. People with diabetes often have multiple co-morbidities which can include obesity, high blood pressure, cardiovascular disease, an

Image: Pixabay

d even cancer. In 1936, the two types of diabetes were made distinct. In 1944 a standard insulin syringe was developed. The structure of insulin was first determined in 1951 and the first genetically engineered, synthetic human insulin for use in patients was produced using E. coli recombinant expression in 1978.

Since then, huge progress has been made in the treatment of diabetes, both type 1 and type 2, including the introduction of the blood glucose meter and the insulin pump. Short and long-acting insulin derivatives that stem from work done within the York Structural Biology Laboratory at the University of York are now the standard treatment for many type 1 diabetes patients worldwide. Researchers at the University of Pennsylvania looked at the prevalence of type 2 diabetes in the US population and looked at the increased risk of death among adults ages 30-84. They calculated that, while diabetes was listed as the cause of death in 3.7 per cent of cases, it was more likely to be the underlying cause in almost 12 per cent of all deaths.

Amongst the obese cohort alone, the death rate from diabetes was closer to 19 per cent. Annually, the NHS currently spends 8.8bn (over 8 per cent of its budget) treating type 2 diabetes and its complications, which range from outpatient services to amputations. On a societal level, too, type 2 diabetes has a huge impact on levels of absenteeism and early retirement as the various complications of the disease affect the sufferers lives.

Prevention of the onset of type 2 diabetes is the ideal solution from a healthcare perspective, and it can be achieved with both lifestyle changes and medication. Patients with prediabetes who go through lifestyle changes alone can reduce their risk of developing type 2 diabetes by 50 to 60 per cent. Simple ways to combat the onset of diabetes include methods such as losing weight, substantially increasing physical activity and quitting smoking. Although it has been known for some time that obesity and its assortment of associated co-morbidities are a leading factor in reduced life expectancy, researchers are hopeful that a focus on treating diabetes, and specifically the control of blood sugar, might help both healthcare workers and policy makers combat the trends in mortality statistics

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Neural Network Learns to Select Potential Anticancer Drugs – Drug Discovery & Development

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Scientists from Mail.Ru Group, Insilico Medicine and MIPT have for the first time applied a generative neural network to create new pharmaceutical medicines with the desired characteristics. By using Generative Adversarial Networks (GANs) developed and trained to "invent" new molecular structures, there may soon be a dramatic reduction in the time and cost of searching for substances with potential medicinal properties. The researchers intend to use these technologies in the search for new medications within various areas from oncology to CVDs and even anti-infectives. The first results were submitted toOncotargetin June 2016 and spent several months in review. Since that time, the group has made many improvements to the system and engaged with some of the leading pharmaceutical companies.

Currently, the inorganic molecule base contains hundreds of millions of substances, and only a small fraction of them are used in medicinal drugs. The pharmacological methods of making drugs generally have a hereditary nature. For example, pharmacologists might continue to research aspirin that has already been in use for many years, perhaps adding something into the compound to reduce side effects or increase efficiency, yet the substance still remains the same. Earlier this year, the scientists at Insilico Medicine demonstrated that it is possible to substantially narrow the search using deep neural networks. But now they have focused on a much more challenging question: Is there a chance to create conceptually new molecules with medicinal properties using the novel flavor of deep neural networks trained on millions of molecular structures?

Generative Adversarial Autoencoder (AAE) architecture, an extension of Generative Adversarial Networks, was taken as the basis, and compounds with known medicinal properties and efficient concentrations were used to train the system. Information on these types of compounds was input into the network, which was then adjusted so that the same data was acquired in the output. The network itself was made up of three structural elements: an encoder, decoder and discriminator, each of which had its own specific role in "cooperating" with the other two. The encoder worked with the decoder to compress and then restore information on the parent compound, while the discriminator helped make the compressed presentation more suitable for subsequent recovery. Once the network learned a wide swath of known molecules, the encoder and discriminator "switched off", and the network generated descriptions of the molecules on its own using the decoder.

Developing Generative Adversarial Networks that produce high-quality images based on textual inputs requires substantial expertise and lengthy training time on high-performance computing equipment. But with images and videos, humans can quickly perform quality control of the output. In biology, quality control cannot be performed by the human eye and a considerable number of validation experiments will be required to produce great molecules.

All the molecules are represented as "SMILEs", or graphical annotations of chemical substances that allow their structure to be restored. The standard registration taught in schools does not fit for network processing, but SMILEs do not do the job very well either, as they have a random length from one symbol to 200. Neural network training requires an equal description length for the vector. The "fingerprint" of a molecule will solve this task, as it contains complete information on the molecule. There are a lot of methods out there for making these fingerprints, but the researchers used the simplest binary one available consisting of 166 digits. They converted SMILEs into fingerprints and taught the network with them, after which the fingerprints of known medicinal compounds were input into the network. The network's job was to allocate inner neuron parameter weights so that the specified input created the specified output. This operation was then repeated many times, as this is how training with large quantities of data is performed. As a result, a "black box" capable of producing a specified output for the specified input was created, after which the developers removed the first layers, and the network generated the fingerprints by itself when the information was run through again. The scientists thus built "fingerprints" for all 72 million molecules, and then compared the network-generated fingerprints with the base. The molecules selected must potentially possess the specified qualities.

Andrei Kazennov, one of the authors of the study and an MIPT postgraduate who works at Insilico Medicine, comments, "We've created a neuronal network of the reproductive type, i.e. capable of producing objects similar to what it was trained on. We ultimately taught this network model to create new fingerprints based on specified properties."

The anticancer drug database was used to check the network. First the network was trained on one half of the medicinal compounds, and then checked on the other part. The purpose was to predict the compounds already known but not included in the training set. A total of 69 predicted compounds have been identified, and hundreds of molecules developed using a more powerful extension of the method are on the way.

According to one of the authors of the research, Alex Zhavoronkov, the founder of Insilico Medicine and international adjunct professor at MIPT, "Unlike the many other popular methods in deep learning, Generative Adversarial Networks (GANs) were proposed only recently, in 2014, by Ian Goodfellow and Yoshua Bengio's group and scientists are still exploring its power in generating meaningful images, videos, works of art and even music. The pace of progress is accelerating and soon we are likely to see tremendous advances stemming from combinations of GANs with other methods. But everything that my groups are working on relates to extending human longevity, durability and increasing performance. When humans go to Mars, they will need the tools to be more resilient to all kinds of stress and be able to generate targeted medicine on demand. We will be the ones supplying these tools."

"GANs are very much the frontline of neuroscience. It is quite clear that they can be used for a much broader variety of tasks than the simple generation of images and music. We tried out this approach with bioinformatics and obtained great results," concludes Artur Kadurin, Mail.Ru Group lead programmer of the search optimizing team and Insilico Medicine independent science advisor.

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Psoriasis has affected absolutely everything in my life – Irish Times

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Marion Morrissey from Co Limerick was diagnosed with psoriasis at 15.

Living with a chronic skin condition can be very difficult as although it may not be life threatening, treatment can be all-consuming and the anxiety caused by such a visible disorder can take its toll.

Up to 140,000 people in Ireland suffer from psoriasis, an auto-immune disorder which causes the skin to reproduce at a rapid pace resulting in itchy, painful scales all over the body, including the scalp and nails.

And if this discomfort wasnt enough, 40,000 will go on to develop psoriatic arthritis which affects the back and joints causing severe pain and immobility.

This month, Arthritis Ireland has launched a campaign entitled More than Skin Deep, which provides expert information on the condition and advice for sufferers.

There is a lot of research going on in Ireland into psoriatic arthritis and its causes, says consultant rheumatologist Prof David Kane.

These are mainly looking at the genes that cause the condition in families and using ultrasound imaging and synovial tissue biopsy of the joints to study patients who have the disease in order to find new targets for treatments.

For immediate pain relief there are a range of painkillers but these do not deal with the underlying inflammation which will ultimately lead to permanent joint damage.

But fortunately there are now a lot of specific treatment options for psoriatic arthritis that will reverse the joint inflammation, reduce pain and prevent joint damage.

Marion Morrissey from Co Limerick knows only too well what it is like to have the condition as she has suffered with it since she was a teenager.

I was diagnosed with psoriasis at 15 so have lived with the condition for more years than I have lived without it and it has affected absolutely everything in my life, says the 39 year old.

My initial diagnosis was of a very dry flaky scalp at the hairdressers. I then went to my GP who diagnosed psoriasis. But that GP (and many others since), didnt have much time or empathy as psoriasis wasnt perceived to be serious as its not usually life threatening.

But my condition got progressively worse until I had almost 75 per cent body coverage. Then when I was 24 I got nail psoriasis which looks like a fungal infection there was no treatment for this but luckily, being female, I could paint my nails. Over the years I have tried every treatment available from conventional to alternative creams, lotions, ointments, sprays, moisturisers, shampoos and PUVA light treatment anything that offered even a glimmer of hope, but none really worked.

Morrissey, who is married with three children and runs her own healthcare training company, http://www.safeaid.ie, was dealt a further blow when the skin condition transferred to her joints.

I developed psoriatic arthritis aged 32 and became really worried about my quality of life, she admits. The pain and stiffness started in my fingers and toes it was really severe especially in the mornings, really affecting my ability to carry out normal daily activities.

My fingers and toes would be hot and throbbing and had a sausage-like appearance so this along with the stiffness and pain made many tasks difficult. Driving was affected as getting a grasp on the steering wheel and pressing on the pedals was hard due to the pain in my toes. Even brushing my daughters hair was a problem as I couldnt hold the brush and this really took its toll emotionally.

The pain and stiffness spread to her knees, ankles, elbows and neck until eventually Morrissey sought help. She was diagnosed with psoriatic arthritis and put on medication and while it took several different drugs to discover which would work best for her condition, her current medication is keeping the pain under control and for the first time in years, she is living life to the full.

I got my official diagnosis from a rheumatologist who gave me steroid injections in my fingers and toes, says Morrissey. But this only worked for a month or so before the symptoms came back. Then I was put on many different types of anti-inflammatory drugs which also just kept things at bay for a while before I got significantly worse.

The pain was so bad at one point that I had to set my alarm for 4am in order to take a cocktail of medication so I could function and get downstairs by 7am. With a new baby and two older children, this was incredibly difficult, particularly as I was also trying to keep my business going.

But 4 years ago I was started on a different drug and I havent looked back since. I have been given my life back and cannot even begin to compare it now to what it was before.

I am totally symptom-free and to date, havent experienced any side effects. I live a very full and busy life both at home and in work and I am very thankful.

My advice for anyone who has just been diagnosed with psoriasis or psoriatic arthritis is to be assertive and keep going until you find the right treatment as the results can be life changing.

Kane says lifestyle changes can also help ease the often crippling symptoms of this condition.

Medication is the cornerstone of treatment for psoriatic arthritis, he says. But patients can also help manage their condition by having a healthy diet, managing their weight to reduce the strain on their lower limb joints, exercising to keep joints and muscles healthy, managing stress levels and seeking help for anxiety and depression.

Anyone who is concerned they may have the condition should raise this with their GP or dermatologist both should be able to spot early signs of psoriatic arthritis.

For more information visit http://www.arthritisireland.ie

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Treatment has no sufficient effect in 1 of 5 psoriasis patients – HealthCanal.com (press release) (blog)

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More than a decade ago, developments in biologics transformed the treatment of moderate-to-severe psoriasis by providing new ways for better skin clearance rates, low toxicity, and improved quality-of-life for patients. Nonetheless, the study led by Marcus Schmitt-Egenolf shows that despite having an ongoing systemic treatment, 18 percent of patients still had extensive psoriasis lesions and/or suffered impairment of their skin-related quality-of-life.

The study was based on PsoReg, which is the Swedish quality register for systemic treatment of psoriasis.2,646 psoriasis patients who had been receiving systemic treatment for at least three months were included in the study, which analyzed their most recent visit registered in PsoReg. Disease severity was measured either by the physicians clinical assessment and/or by the patients own assessment of their skin-related quality of life.

Compared to the larger patient group, the subgroup of patients with suboptimal therapy-response were younger and had higher BMI. They were also more often suffering from psoriasis arthritis and were more often smokers. The subgroup with higher persisting psoriasis severity also reported worse overall quality-of-life, measured with the standard evaluation method EQ-5D questionnaire.

That almost one in five patients had highly active disease activity, despite ongoing systemic treatment, is concerning, says Marcus Schmitt-Egenolf.

Based on the results, the authors make several suggestions:

Link to article in Journal of Dermatological Treatment

Journal of Dermatological Treatment, article: Real-world outcomes in 2,646 psoriasis patients: One in five has PASI 10 and/or DLQI 10 under ongoing systemic therapy. Authors: J.M. Norlin, P.S. Calara, U. Persson, and M. Schmitt-Egenolf. DOI: 10.1080/09546634.2017.1289147.

Marcus Schmitt-Egenolf, Department of Public Health & Clinical Medicine, Ume University Phone: +46 (0)90 785 2875 Email: marcus.schmitt-egenolf@umu.se

Photo by Mattias Pettersson

Editor: Daniel Harju

Link to news: http://www.umu.se/english/news/.cid279166

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Treatment has no sufficient effect in 1 of 5 psoriasis patients - HealthCanal.com (press release) (blog)

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Ai-Ai reveals she’s been battling psoriasis since age 15 | Inquirer … – Inquirer.net

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Ai-Ai delas Alas

There is a new liveliness to comedienne Ai-Ai delas Alas gait these days.

She has obviously lost weight and is now often seen wearing outfits that bare more skin, specifically her arms and shoulders.

Ai-Ai disclosed she has been suffering from psoriasisa skin conditionsince she was 15 years old, but that she had learned to cope with the disease.

Ive kept it a secret for a long time, but now that it has become manageable Ive decided to talk about it publicly so I can share what I did to more people, the 52-year-old actress said.

She said she had always worn long-sleeved shirts to hide the red scaly patches on her arms, even during the peak of summertime. This proved to be a big problem when she became an actress.

If work required me to expose my skin, I had to cover everything with makeup, she shared with the Inquirer.

Ai-Ai said she had a major skin flare-up in the middle of 2016, and so she took her usual shots from her doctor. But the medicine did not seem to suit me anymore, so I did some research on the illness through the internet and saw a cookbook for psoriasis. I learned that Ive been eating a lot of the food that psoriasis patients are not allowed to eat, she explained.

These days, her diet consists of less salt and sugar, no meat, no dairy products and all organic vegetables. On some days, I allow myself to have eggs and chicken breast meat. I still eat ice cream but it has to be soya-based. I dont take soft drinks anymore and avoid anything with preservatives.

When time permits, she would also hit the gym and do circuit training for an hour and a half. I run for 30 minutes on the treadmill, too, and do toning exercises with dumbbells weighing 10 pounds, she related.

Ai-Ai said the key was to try to learn as much as you can about the illness youre afflicted with. Psoriasis manifests if ones immune system is compromised, the actress explained, adding that psoriasis awareness is now her advocacy.

A friend who was helping me in the renovation of my house also has psoriasis. I told him to quit or minimize smoking and eat organic food. He followed my advice and now I noticed that hes not wearing long-sleeved shirts anymore. Thats when I realized that I could help others by sharing my experiences with them, Ai-Ai said.

She also influenced her children into eating only organic food, especially when theyre feeling sick. Often, their stomachache would go away. I used to have asthma and suffered from vertigo. I have not experienced any attacks lately.

The actress has lost 27 pounds (12.25 kilograms) since she had a change in lifestyle.

My goal was to shed off only 20 pounds (9.07 kg), but Im still losing weight now. As a result, I feel good about myself. I get to wear all the clothes I want, Ai-Ai declared, recalling to mind a photo recently uploaded on Instagram with her looking slim in a black swimsuit. I feel healthy and beautiful, and thats a good start.

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US experts soften on DNA editing of human eggs, sperm, embryos – Reuters

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CHICAGO Powerful gene editing tools may one day be used on human embryos, eggs and sperm to remove genes that cause inherited diseases, according to a report by U.S. scientists and ethicists released on Tuesday.

The report from the National Academy of Sciences (NAS) and the National Academy of Medicine said scientific advances make gene editing in human reproductive cells "a realistic possibility that deserves serious consideration.

The statement signals a softening in approach over the use of the technology known as CRISPR-Cas9 that has opened up new frontiers in genetic medicine because of its ability to modify genes quickly and efficiently.

In December 2015, scientists and ethicists at an international meeting held at the NAS in Washington said it would be "irresponsible" to use gene editing technology in human embryos for therapeutic purposes, such as to correct genetic diseases, until safety and efficacy issues are resolved.

Though the technology is still not ready, the latest NAS report says clinical trials for genome editing of the human germline could be permitted, "but only for serious conditions under stringent oversight."

Such editing is not legal in the United States, and other countries have signed a convention prohibiting the practice on concerns it could be used to create so-called designer babies.

CRISPR-Cas9 works as a type of molecular scissors that can selectively trim away unwanted parts of the genome, and replace it with new stretches of DNA.

Genome editing is already being planned for use in clinical trials of people to correct diseases caused by a single gene mutation, such as sickle cell disease. But these therapies affect only the patient.

The concern is over use of the technology in human reproductive cells or early embryos because the changes would be passed along to offspring.

Research using the powerful technique is plowing ahead even as researchers from the University of California and the Broad Institute battle for control over the CRISPR patent.

Although gene editing of human reproductive cells to correct inherited diseases "must be approached with caution, caution does not mean prohibition," the committee said in a statement.

Sarah Norcross of the Progress Educational Trust, which advocates for people affected by genetic conditions, called the recommendations "sensible and prudent."

But Marcy Darnovsky of the Center for Genetics and Society said they were "unsettling and disappointing," arguing that they "constitute a green light for proceeding with efforts to modify the human germline" - changes that can be passed to future generations.

(Reporting by Julie Steenhuysen; Editing by Marguerita Choy and Andrew Hay)

BEIJING China plans to launch its first cargo spacecraft in April, state media reported on Tuesday, taking a step toward its goal of establishing a permanently manned space station by 2022.

STOCKHOLM Swedish academic Hans Rosling, a doctor and statistician who captured a worldwide audience with his witty style and original thinking on topics like population growth and development, has died at the age of 68.

CAPE CANAVERAL, Fla. Space Exploration Technologies Corp, better known as SpaceX, plans to launch its Falcon 9 rockets every two to three weeks, its fastest rate since starting launches in 2010, once a new launch pad is put into service in Florida next week, the company's president told Reuters on Monday.

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Optogenetics used to kick start gene that plays role in neural defects – Medical Xpress

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February 14, 2017 by Brian Wallheimer This stylistic diagram shows a gene in relation to the double helix structure of DNA and to a chromosome (right). The chromosome is X-shaped because it is dividing. Introns are regions often found in eukaryote genes that are removed in the splicing process (after the DNA is transcribed into RNA): Only the exons encode the protein. The diagram labels a region of only 55 or so bases as a gene. In reality, most genes are hundreds of times longer. Credit: Thomas Splettstoesser/Wikipedia/CC BY-SA 4.0

Purdue University and Indiana University School of Medicine scientists were able to force an epigenetic reaction that turns on and off a gene known to determine the fate of the neural stem cells, a finding that could lead to new therapeutics in the fight against select cancers and neural diseases.

Joseph Irudayaraj, a Purdue professor of agricultural and biological engineering, and Feng Zhou, a professor and neuroscientist at the Indiana University School of Medicine, have developed an optogenetic toolbox that brings together proteins and enzymes that methylate or demethylate a gene called Ascl1. Alteration of the methylation pattern in a specific gene with the optogenetic proteins would allow scientists to turn that gene on or off and produce desirable neurons among other cell types.

"If we can alter the epigenetic state at a specific location of a gene, then we can turn that gene on or off for personalized medicine," Irudayaraj said.

The findings, published in the journal Nature Scientific Reports, have implications for a number of diseases and maladies.

"By the ability of determining the fate of stem cells, one day it may be applied to produce neurons in Down syndrome, or reduce malignancy of glioma, a cancer in the brain," Zhou said. "By altering the methylation marks at a specific location of the gene, we have shown that the state of a cell can be altered."

Epigenetics is the study of changes in chemical modifications on top of a gene based on external or environmental factors rather than changes in a DNA sequence. Optogenetics involves the utilization of light-sensitive proteins to alter the genetic or epigenetic profile in a cell or organism.

The researchers' findings detail the ability to modify the methylation profile of the Ascl1 gene in a site-specific manner, thereby controlling gene expression. DNA methylation involves adding a methyl group to the cytosine base of DNA, utilizing a family of enzymes called DNA methyltransferases (DNMTs). DNA demethylation is the removal of a methyl group from the cytosine bases using enzymes called Ten-Eleven Translocation, or TET.

Irudayaraj and his team attached these cytosine-modifying enzymes DNMT3A/TET to light-sensitive protein pairs to demonstrate site-specific methylation/demethylation. Zhou and his team introduced those light-sensitive proteins into neural stem cells and found that when they shined a blue light, the methylation modifying enzyme DNMT3A/TET and the gene target came together, adjusting the methylation of the gene.

"It's almost like putting a worm on a hook, and putting it in the water to catch a fish when it comes along. Once the light goes on, the hook and the fish come together and you catch the fish," Irudayaraj said.

The ability to activate or deactivate a gene, specifically those that suppress or promote a disease condition, could be a valuable tool for cancer therapeutics as well. The team plans to take the findings, done on neural stem cells, to mouse model systems.

"We want to apply this to therapeutics or toxicology," Irudayaraj said. "Essentially the applications are very broad. It can also include nervous system malfunctions, including addiction."

Explore further: Epigenetics and neural cell death

More information: Chiao-Ling Lo et al. Epigenetic Editing of Ascl1 Gene in Neural Stem Cells by Optogenetics, Scientific Reports (2017). DOI: 10.1038/srep42047

Ludwig-Maximilians-Universitaet researchers have demonstrated how deregulation of an epigenetic mechanism that is active only in the early phases of neurogenesis triggers the subsequent death of neural cells.

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Purdue University and Indiana University School of Medicine scientists were able to force an epigenetic reaction that turns on and off a gene known to determine the fate of the neural stem cells, a finding that could lead ...

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Gene variants associated with body shape increase risk of heart disease, type 2 diabetes – Medical Xpress

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February 14, 2017

A study from Massachusetts General Hospital (MGH) researchers has found that a pattern of gene variants associated with an "apple-shaped" body type, in which weight is deposited around the abdomen, rather than in the hips and thighs, increases the risk for type 2 diabetes and coronary heart disease, as well as the incidence of several cardiovascular risk factors. The report appears in the February 14 issue of JAMA.

"People vary in their distribution of body fat - some put fat in their belly, which we call abdominal adiposity, and some in their hips and thighs," says Sekar Kathiresan, MD, director of the MGH Center for Genomic Medicine, associate professor of Medicine at Harvard Medical School, and senior author of the JAMA report. "Abdominal adiposity has been correlated with cardiometabolic disease, but whether it actually has a role in causing those conditions was unknown. We tested whether genetic predisposition to abdominal adiposity was associated with the risk for type 2 diabetes and coronary heart disease and found that the answer was a firm 'yes'."

While several observational studies have reported greater incidence of type 2 diabetes and heart disease among individuals with abdominal adiposity, they could not rule out the possibility that lifestyle factors - such as diet, smoking and a lack of exercise - were the actual causes of increased disease risk. It also could have been possible that individuals in the early stages of heart disease might develop abdominal adiposity because of a limited ability to exercise. The current study was designed to determine whether body type really could increase cardiometabolic risk.

To answer that question, the research team applied a genetic approach called mendelian randomization, which measures whether inherited gene variants actually cause outcomes such as the development of a disease. Using data from a previous study that identified 48 gene variants associated with waist-to-hip ratio adjusted for body mass index - an established measure for abdominal adiposity - they developed a genetic risk score. They then applied that score to data from six major genome-wide association studies and to individual data from the U.K. Biobank - a total research group of more than 400,000 individuals - to determine any association between a genetic predisposition to abdominal adiposity and cardiometabolic disease and its risk factors.

The results clearly indicated that genetic predisposition to abdominal adiposity is associated with significant increases in the incidence of type 2 diabetes and coronary heart disease, along with increases in blood lipids, blood glucose and systolic blood pressure. No association was found between the genetic risk score and lifestyle factors, and testing confirmed that only the abdominal adiposity effects of the identified gene variants were associated with cardiometabolic risk.

"These results illustrate the power of using genetics as a method of determining the effects of a characteristic like abdominal adiposity on cardiometabolic outcomes," says lead author Connor Emdin, DPhil, of the MGH Center for Genomic Medicine and the Cardiology Division. "The lack of association between the body type genetic risk score and confounding factors such as diet and smoking provides strong evidence that abdominal adiposity itself contributes to causing type 2 diabetes and heart disease."

Emdin continues, "Not only do these results allow us to use body shape as a marker for increased cardiometabolic risk, they also suggest that developing drugs that modify fat distribution may help prevent these diseases. Future research also could identify individual genes that could be targeted to improve body fat distribution to reduce these risks."

Explore further: Adiposity genetic risk score tied to cardiometabolic health

More information: JAMA, DOI: 10.1001/jama.2016.21042

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Gene variants associated with body shape increase risk of heart disease, type 2 diabetes - Medical Xpress

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