Scientists at the National Human Genome Research Institute (NHGRI) and at the National Institute of Neurological Disorders and Stroke (NINDS) have identified the gene responsible for two related, inherited neurological disorders, and have, for the first time, directly implicated this gene and its enzyme product in a human genetic disease.
The discovery supports further investigation of this gene family for additional neurological disease genes, research that may shed light on a range of disorders, including carpel tunnel syndrome, which affects the hands and the wrists, and the fatal degenerative disease amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease.
NHGRI and NINDS scientists, working together at the National Institutes of Health (NIH), found the gene responsible for Charcot-Marie-Tooth (CMT) disease type 2D and distal spinal muscular atrophy (dSMA) type V. The gene, called GARS — the glycyl tRNA synthetase gene — is located on chromosome 7 and encodes, or provides the instructions to make, one of the aminoacyl tRNA synthetases, a family of enzymes vital to the cell's ability to build proteins.
Message posted by: Rashmi Nemade
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