Motor neuron disease (MND) is a rare, devastating illness in which nerve cells that carry brain signals to muscles gradually deteriorate.
A team of U-M scientists has discovered mutations in one key gene (neuropathy target esterase) that cause a previously unknown type of inherited motor neuron disease. This discovery paves the way for better diagnosis and research on treatments.
The scientists found the mutations caused changes in a protein already known to be involved when people develop neurologic disorders as a result of exposure to toxic organophosphates — chemicals commonly used in solvents and insecticides and also as “nerve gas” agents. This discovery points to a new lead in the search to understand MND.
“We speculate there may be gene-environment interactions that cause some forms of motor neuron disease,” says Dr. John K. Fink, professor of neurology at the Medical School and senior author of the new study, which appears in the March issue of the American Journal of Human Genetics.
Additional authors include research assistant professor Shirley Rainier, Melanie Bui, Erin Mark, Donald Thomas, Debra Tokarz, Lei Ming, Colin Delaney, and Dr. James Albers, of the Department of Neurology; and Rudy Richardson, associate professor of neurology at the Medical School and Dow Professor of Toxicology in Environmental Health Sciences at the School of Public Health.
