BAR HARBOR -- Scientists at The Jackson Laboratory have cloned the gene for the mouse mutation known as neuromuscular degeneration, or nmd, an advance that could boost research into such devastating neurological diseases in humans as amyotrophic lateral sclerosis and spinal muscular atrophy.
The results are published in a research paper, "Identification of the mouse neuromuscular degeneration gene and mapping of a second site suppressor allele," in the December 1998 issue of the scientific journal Neuron. The Jackson Laboratory team was led by Dr. Gregory A. Cox, Dr. Wayne N. Frankel, and Connie L. Mahaffey.
"There are no effective treatments for these diseases, and the underlying causes of neurodegeneration remain obscure," said Dr. Cox, a Research Scientist in Dr. Frankel's group. "Mouse models of human disease like nmd provide unique tools for both gene discovery and analysis of underlying disease mechanisms. Our findings provide an additional tool for understanding the complex process of motor neuron death."
The nmd mouse was originally discovered at The Jackson Laboratory and reported in Mammalian Genome (March 1995) by researchers Susan A. Cook and Drs. Kenneth R. Johnson, Roderick T. Bronson, and Muriel T. Davisson. The mutation causes severe muscle atrophy due to progressive degeneration of spinal motor neurons, which control the movement of voluntary muscles. The mice exhibit progressive paralysis that initially begins with the hindlimbs. Variable forelimb paralysis occurs in later stages of the disease, with life expectancy rarely exceeding four weeks.
Similar motor neuron degeneration is implicated in amyotrophic lateral
sclerosis (ALS) and spinal muscular atrophy (SMA). ALS, or "Lou Gehrig's
Disease," is a fatal neurological disorder that attacks motor cells in the
spinal cord and brain. The disease affects up to 30,000 people in the United
States. About 5-10% of ALS cases are classified as familial an
Contact: Luther Young