현재 위치：홈 > 뉴스현황 > Press Events > DNA Repair Genes May...
저자： 업로드：2015-08-17 조회수：
A research team that searched the chromosomes of more than 4,000 Huntington's disease patients reports that they found that DNA repair genes may determine when the neurological symptoms begin. The scientists believe the results may provide a guide for discovering new treatments for Huntington's disease and a roadmap for studying other neurological disorders.
"Our hope is to find ways that we can slow or delay the onset of Huntington's devastating symptoms," said James Gusella, Ph.D., director of the Center for Human Genetic Research at Massachusetts General Hospital, and the corresponding author of the study (“Identification of Genetic Factors that Modify Clinical Onset of Huntington’s Disease”) published online in Cell. "This could be possible because we now have a list of clinically proven genetic factors that influence the disease."
Huntington's disease is an inherited neurodegenerative disorder caused by mutations in a gene that encodes the Huntington protein. Symptoms usually begin in midlife and include uncontrolled movements, emotional disturbances and, eventually, dementia. Although studies in humans and animals have discovered clues as to how the disorder works, there are no effective treatments.
For this study, the scientists tried a slightly different approach. They employed a novel application of genome wide association study analysis, a technique that scientists typically use to search for single letter changes to the DNA code on patients' chromosomes, which may increase or decrease their chances of having the disease. Here, the scientists already knew the disease-causing gene and so they used the technique to search for other changes that determine when the disease starts. They found that at least three sites were associated with symptoms appearing earlier or later than expected, two on chromosome 15 and one on chromosome eight.
"This approach could have a significant impact on Huntington's disease patients and researchers," noted Margaret Sutherland, Ph.D., program director, the National Institute of Neurological Disorders and Stroke. "It's an example of how precision medicine may be applied to neurological disorders."
The study was conducted by the Genetic Modifiers of Huntington's Disease Consortium, an international team of scientists devoted to finding treatments for the disorder. Starting more than three decades ago they collected DNA samples and clinical information from patients, mainly in the U.S., Canada, and Europe.
"We thank the patients and their families for their commitment to research," said Dr. Gusella. "It takes a dedicated global effort to meet the complex challenges presented by neurological disorders like Huntington's disease."
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