MONDAY, Feb. 27, 2006 (HealthDay News) -- Mutations in a specific gene may drive a disorder that causes mental retardation and a neurodegenerative movement disorder called spinocerebellar ataxia, new research suggests.
The findings may eventually help lead to new treatments for a number of disorders, including Alzheimer's and Parkinson's disease, the researchers added.
The gene in question, KCNC3, regulates how potassium enters cells. "This type of gene has never before been linked to nerve cell death," study leader Dr. Stefan Pulst, of Cedars-Sinai Medical Center at the University of California, Los Angeles, said in a prepared statement.
Reporting in the Feb. 26 online edition of Nature Genetics, Pulst and his colleagues studied a family with a history of spinocerebellar ataxia. The disorder appears in adulthood and causes the loss of neurons in the brain's cerebellum, resulting in a progressive loss of coordination (ataxia).
The researchers traced the cause of the disease to mutations in the KCNC3 gene. A different KCNC3 mutation was identified as the cause of spinocerebellar ataxia 13, which causes childhood-onset ataxia, cerebellar degeneration, and mild mental retardation.
The KCNC3 gene encodes for a type of potassium channel that normally opens and closes very quickly. This kind of channel plays an important role in fast-bursting neurons, which fire hundreds of times per second in the brain and are crucial components of the nervous system.
Previous research has identified potassium channel abnormalities in Alzheimer's, Huntington's and Parkinson's disease. This study adds to the evidence that potassium channel abnormalities may be a factor in a number of neurodegenerative diseases.
More information
The U.S. National Institute of Neurological Disorders and Stroke has more about ataxias and spinocerebellar degeneration.
