Category Archives: Transhuman News

20.01.2015 - (idw) Universittsklinikum Heidelberg

A gene that influences the communication between nerve cells has a higher mutation rate in schizophrenia patients than in healthy individuals / Previously unknown gene mutations show a functional effect in nerve cells / Parallels between genetic alterations in patients with schizophrenia and autism / Scientists from Heidelberg publish in Molecular Psychiatry Researchers from Heidelberg University Hospital have identified 10 previously unknown genetic alterations (mutations) in schizophrenia patients. The affected gene defines the blueprint for a scaffolding protein, the SHANK2 protein, which plays a determinant role in the structures connecting nerve cells (neurons). These 10 gene variants represent risk factors for schizophrenia, said Prof. Dr. Gudrun Rappold, head of the Department of Molecular Human Genetics at Heidelberg University Hospital and senior author of the article. The alterations have only been found in schizophrenia patients and are not in any healthy individuals. Mutations that are not found in healthy people could have a direct effect on the disease says Dr. Slavil Peykov, researcher and first author of the study. The results have recently been published in the renowned scientific journal Molecular Psychiatry.

The protein SHANK2 is already known to Professor Rappolds research department from another standpoint: in 2010, they identified several alterations in the SHANK2 gene in patients with autism disorders and intellectual disability. The recently identified mutations in schizophrenia patients reside in the same gene but their positions, and thus their detrimental effect, differ from those previously found in autism. Modifications in one gene can lead to very diverse neurobiological disorders, such as autism, intellectual disability or schizophrenia. Apparently the exact nature and position of the alteration influences the resulting neuropsychiatric disease and the gravity of the symptoms explains Prof. Rappold. In the study, experiments with neurons revealed that these mutations alter the connections between neurons (synapses) to varying degrees, in such a way that the communication between these cells is affected.

One percent of the worlds population suffers from schizophrenia

Worldwide, approximately 1% of the population is afflicted with schizophrenia. The disease most commonly develops in early adulthood. The affected patients can rarely lead normal, independent lives without treatment, ranging from needing help with everyday tasks to a complete loss of social and professional functioning. Schizophrenia is classified as a disorder of perception; typical symptoms are delusions and hallucinations, though symptoms and their severity vary from patient to patient. These individuals are also more likely to suffer from other disorders than the general population, such as speech deficits, addiction and depression. The exact causes and triggers of schizophrenia remain to date unknown.

In the most recently published study, the SHANK2 gene was investigated in DNA from 481 affected patients and 659 healthy controls, in collaboration with Professor Marcella Rietschel, Department of Genetic Epidemiology, Central Institute of Mental Health in Mannheim and Professor Markus Noethen, Institute of Human Genetics at the University of Bonn. Approximately twice as many genetic alterations were found in patients with schizophrenia compared to people with no psychiatric disorders. The onset of disease is likely prompted only when further factors are also present, for example, certain environmental risk factors, explains human geneticist Prof. Rappold.

Early diagnosis is paramount to a satisfactory quality of life for the patient; the earlier a patient is treated, both pharmacologically and socially, the less likely they are to relapse and develop further disorders. Therefore, our understanding of the genetic causes of this disorder could, in the future, help doctors distinguish individual patient groups suffering from similar disease courses, and consequently individualize treatment options explains Prof. Rappold. If scientists could find exactly which molecules in which molecular networks are faulty in the brain, precise therapies for that particular disease progression could be developed. For example, in the aforementioned 481 schizophrenia patients, 4 non-related patients were found to have an identical SHANK2 mutation. All four patients developed schizophrenia at similar time points and with similar symptoms. If one mutation could lead to a similar set of symptoms and one treatment could correct the consequences of that mutation, the genetic screening for this mutation in potential candidates could very much improve their treatment plan. The close relationship between geneticists, neurobiologists and clinicians should now lead to a better diagnosis and to the identification of knowledge based treatments.

Contact for journalists: Professor Dr. rer. nat. Gudrun A. Rappold Abteilung Molekulare Humangenetik Institut fr Humangenetik Universittsklinikum Heidelberg Tel.: 06221 / 56 50 59 E-Mail: Gudrun.Rappold@med.uni-heidelberg.de

Heidelberg University Hospital and Medical Faculty: Internationally recognized patient care, research, and teaching

Heidelberg University Hospital is one of the largest and most prestigious medical centers in Germany. The Medical Faculty of Heidelberg University belongs to the internationally most renowned biomedical research institutions in Europe. Both institutions have the common goal of developing new therapies and implementing them rapidly for patients. With about 12,600 employees, training and qualification is an important issue. Every year, around 66,000 patients are treated on a fully or partially inpatient basis and over 1,000,000 patients have been treated on an outpatient basis in more than 50 clinics and departments with 1,900 beds. Currently, about 3,500 future physicians are studying in Heidelberg; the reform Heidelberg Curriculum Medicinale (HeiCuMed) is one of the top medical training programs in Germany. Weitere Informationen:http://www.klinikum.uni-heidelberg.de/Abt-Molekulare-Humangenetik.6096.0.html Department of Molecular Human Genetics

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Schizophrenia: genetic alterations linked to functional changes in nerve cells

The study of the Caernorhabditis elegans worm will aid researchers understanding of the genetics of human disease, whilst reducing the need for animal testing

IMAGE:Dr Tarja Kinnunen will study the benefits of the worm, named Caernorhabditis elegans or C. elegans, which will offer a better understanding of the genetic basis for many human diseases... view more

Credit: University of Huddersfield

THE study of tiny worms that are barely visible to the naked eye could lead to new treatments for ailments such as kidney disease and to the development of drugs designed to slow down the effects of ageing on human health.

Now, a University of Huddersfield scientist has received major funding that will enable her to develop her work in this field and to recruit and train a new researcher.

Also, Dr Tarja Kinnunen is poised to deliver a free public lecture (January 21) that will describe the benefits of studying the worm, named Caernorhabditis elegans or C. elegans. These include a better understanding of the genetic basis for many human diseases.

Another advantage is that by using the worms for fundamental scientific discoveries, the need to carry out research using animals such as rodents and primates can be greatly reduced. This factor has led to Dr Kinnunen being awarded 90,000 doctoral training studentship by the National Centre for the Refinement and Reduction of Animals in Research (NC3RS).

The money will enable the appointment of a new doctoral student, supervised by Dr Kinnunen, who will use C. elegans in order to understand the important role played by a recently-discovered protein molecule named Klotho on physiology, including the effects of ageing.

Research involving animals

Most research into Klotho involves animals. But Dr Kinnunen and her researchers, via genetics and microscopy, use the worms, which are about a millimetre in length. It was almost 50 years ago that the Cambridge-based geneticist Sydney Brenner pioneered the use of C. elegans as an organism that was ideal for experiments, enabling scientists to link genetic analysis to animal development, following the process under the microscope. Since then, three Nobel prizes have been won by scientists who deployed C. elegans in their research.

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90,000 research project of tiny garden compost worms for new research on human diseases

Striving to unravel and comprehend DNAs biological significance, Cornell scientists have created a new computational method that can identify positions in the human genome that play a role in the proper functioning of cells, according to a report published Jan. 19 in the journal Nature Genetics.

The human genome is vast, totaling some three billion base pairs of nucleotides, the subunits of DNA. But only about 1.25 percent of those billions of base pairs account for genes that encode all the proteins we use. A fraction of the rest of that genetic material regulates genes and turns them on and off, but these have yet to be fully identified.

This paper tackles the deep question of how to identify functional non-coding human genomic material controlling human traits and disease, said Brad Gulko, the papers first author and a graduate student in the field of computer science. Gulkos adviser, Adam Siepel, Cornell associate professor of biological statistics and computational biology and professor of computer science at Cold Spring Harbor Laboratory, is a co-author.

What makes our approach unique is the straightforward combination of DNA biochemistry with recent evolutionary pressures," said Gulko. "Our method allows other scientists not only to use the results, but to readily understand them.

Insight into the human genome gained from this new computation method could be applied to personalized medicine and it may be a big step toward developing treatments for diseases like AIDS, malaria, muscular sclerosis, ALS and Alzheimers.

Geneticists identify biologically significant DNA by looking for signals of selective pressure in DNA, genes and genetic material that give individuals in a population advantages and greater fitness, or reproductive success.

The new method combines two previously used techniques to identify selective pressure. One technique looks for divergence, or differences between humans and chimpanzee genomes accumulated over millions of years; a less commonly used method looks for mutations in DNA (polymorphisms) between individual humans.

The new computational method clusters functionally similar markers in the genome into groups, then estimates a probability of whether a group is contributing to the fitness of the species based on associated patterns of divergence and genomic polymorphisms.

In this way, the researchers receive a fitness consequence (fitCons) score that predicts which genetic material might be under selective pressure and therefore biologically significant.

Compared to conventional techniques, fitCons scores demonstrate a much greater power to predict which genetic material regulates the expression of genes.

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New computation method helps identify functional DNA