Scientists Link Two Genetic Mutations to Deadly Non-Inherited Muscle Disease

Johns Hopkins University researchers have identified two genetic mutations that appear to cause or contribute to nearly half the non-inherited cases of the deadly muscle disease amyotrophic lateral sclerosis, better known as Lou Gehrig’s disease. Scientists discovered in 1993 that the inherited form is caused by a defect in a gene called superoxide dismutase 1 that clears toxic wastes from the body.

Dr. Jeffrey Rothstein and his colleagues told a meeting of the Society for Neuroscience in Washington that the defect involves a protein, called EAAT2, that normally deactivates and recycles glutamate, a chemical used by nerve cells to send messages to each other.