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.
"The identification of the defective gene on chromosome 7 responsible for a type of Charcot-Marie-Tooth disease provides another vivid example of how the recently completed human genome sequence is accelerating studies in human genetics," said Francis S. Collins, M.D., Ph.D., director of NHGRI. "With this discovery, we now know that the GARS gene--whose function is so fundamental to biological processes--can be mutated in a fashion that results in a highly discrete neurological disease."
The study, a collaboration between the laboratories of Eric Green, M.D., Ph.D., at NHGRI, Kenneth Fischbeck, M.D., at NINDS, and Lev Goldfarb, M.D., also at NINDS, will be available online in April and published in the May issue of the American Journal of Human Genetics. Lead author Anthony Antone
Contact: Geoff Spencer
NIH/National Human Genome Research Institute