Genetics a factor in chronic fatigue

Chronic fatigue syndrome appears to result from something in people's genetic makeup that reduces their ability to deal with physical and psychological stress, researchers reported Thursday.

The research is being called some of the first credible scientific evidence that genetics, when combined with stress, can bring on chronic fatigue syndrome -- a condition so hard to diagnose and so poorly understood that some question whether it is even a real ailment.

Researchers said the findings could help lead to better means of diagnosing and treating chronic fatigue syndrome and predicting those who are likely to develop the disorder, which is characterized by extreme, persistent exhaustion.

''The results are ground-breaking,'' said Dr. William Reeves of the Centers for Disease Control and Prevention.

Reeves said the study demonstrates that people with chronic fatigue syndrome are unable to deal with everyday challenges and adversity. That could include injuries, illnesses, divorce, even stressful jobs, the researchers said.

The CDC estimates that more than 1 million Americans have the condition, with women suffering at four times the rate among men.

The research is contained in a collection of 14 articles published in this month's issue of Pharmacogenomics, a scientific journal.

The centerpiece is a study of 227 people with chronic fatigue syndrome in Wichita, Kan. Over two days, doctors performed psychiatric evaluations, assessed their physical limitations, looked at their medications, and tested their blood and urine for chemical and biological abnormalities.

The data included 500 clinical measures and 20,000 measures of gene expression, which is the process by which genes regulate cell activity.

The information was then given to four teams of investigators, including medical experts, molecular biologists, mathematicians and engineers.

Among their findings: Chronic fatigue patients tested with high levels of allostatic load, which is a stress measure of hormone secretions, blood pressure and other signs of wear and tear on the body. The patients were about twice as likely to have a high allostatic load index as people who did not have chronic fatigue syndrome.

The researchers also found that certain genetic sequence variations in five stress-moderating genes showed up consistently in chronic fatigue patients. And they identified at least five subtypes of chronic fatigue syndrome, classified according to criteria that include their genetics and the way their symptoms unfold.

''Because we have this information, we're going to be able to predict who is more susceptible to certain types of stressful events,'' said Suzanne Vernon, molecular biology team leader for the CDC's CFS Research Laboratory in Atlanta.

Chronic fatigue syndrome is a complex illness characterized by at least six months of severe fatigue that is not helped by bed rest. Patients also report such symptoms as muscle pain and impaired memory.

The cause has never been identified, and there are no specific tests for it. It was first identified in the 1980s, but many people -- including some health professionals -- have greeted CFS patients with skepticism, regarding it as the complaint of ''a bunch of hysterical upper-class white women,'' said Reeves, who heads the CDC's CFS research program.

The CDC research joins a cluster of studies published in the past eight months that implicate certain genes and gene expressions as a contributing factor to the condition, said Kim McCleary, president of the Charlotte, N.C.-based Chronic Fatigue and Immune Dysfunction Syndrome Association of America.

The findings contribute to an evolving, complicated explanation of how genes, stress and other factors work together to cause and perpetuate the illness, she said.

Source:
Monterey County Herald

Funding for EMBOSS Bioinformatics

EMBOSS, the European Molecular Biology Open Software Suite, has received new funding from the Biotechnology and Biological Sciences Research Council (BBSRC) in the United Kingdom that ensures its survival as an open-source utility, at least for the next three years.

The fate of the EMBOSS project had been in doubt for the past two years, following the closure last summer of the Rosalind Franklin Centre for Genomics Research (RFCGR), which had hosted the project.

“We’re delighted that the BBSRC has recognized EMBOSS as an important tool for molecular biology,” said project co-founder Peter Rice in a statement. “The EMBOSS user community has been very patient, and it highlights a great benefit of open source software that even users in industry have continued to rely on EMBOSS despite the uncertainty about its future. This simply could not have happened if EMBOSS had been a commercial package under threat.”

EMBOSS is an open-source suite of some 300 applications for molecular biologists and bioinformaticians. Applications include sequence alignment, database searching, protein motif identification, pattern analysis, genome codon usage, and presentation tools for publication.
EMBOSS also has an application-programming interface (API) that enables software developers to write their own applications and create workflows that automate complex tasks. The suite is included in many commercial bioinformatics systems and has emerged as a core component of several data integration and bioinformatics projects, including myGrid and EMBRACE.

The EMBOSS suite was developed from work initially done by Rice in the late 1980s on the GCG informatics package, while based at the European Molecular Biology Laboratory in Heidelberg, Germany. After moving to the Wellcome Trust Sanger Institute in Cambridge, England, Rice and Alan Bleasby began developing a new suite of open-source tools - EMBOSS - in 1996, with initial funding from the Wellcome Trust, and later the BBSRC and Medical Research Council.

Another benefit of the new BBSRC funding is helpdesk support. Bleasby said: “As well as helping researchers with limited bioinformatics expertise to make the most of EMBOSS, we will be able to provide better support and documentation to the estimated 20 percent of our users who are also software developers. We will encourage these experts to contribute their code to the project. In return, we will make their software widely available through the EMBOSS website and provide ongoing user support for it. This mechanism will help to ensure that EMBOSS evolves according to the needs of its users.”

Source:
Bio-ITWolrd.com