Gene causes neuropathy and brain disease

ROCKVILLE, Md., March 11 (UPI) -- U.S. and Australian scientists say they've determined a gene that causes a fatal childhood brain disorder can also cause peripheral neuropathy in adults.

The researchers say their findings are the first to show different mutations in the same gene can produce seemingly unrelated disorders.

Charcot-Marie-Tooth disease involves a broad range of inherited peripheral neuropathies that cause loss of muscle tissue in the hands, feet and lower legs of affected patients, usually starting in adulthood. Various genetic causes have been identified for the severe childhood brain disorder called Menkes disease that is fatal if not treated.

In the current study, the researchers said they determined people with a CMT-like neuropathy have a mutation in the same gene that causes Menkes disease. The researchers said the gene, called ATP7A, codes for a protein needed to move the trace metal copper between different compartments within the body's cells, or out of cells altogether.

"The findings provide insight into how peripheral nerves function and may ultimately lead to new treatments for some peripheral neuropathies," said Dr. Alan Guttmacher, acting director of the Eunice Kennedy Shriver National Institute of Child Health and Human Development, which collaborated in the study.

The research that included Marina Kennerson of the University of Sydney and Dr. Stephen Kaler of the NICHD's molecular metabolism program appears in the American Journal of Human Genetics.