Opening a window to understand the molecular basis of a hereditary ataxia, Dartmouth Medical School researchers have identified an enzyme activity that is inactivated in all reported mutant forms of a disease protein. The discovery may lead to therapies to treat the neurological disease. The study appears in the June 3, 2005 issue of the Journal of Biological Chemistry (JBC) as Paper of the Week, an honor conferred on approximately 1% of JBCs 6600 annual publications.
Dr. Charles BrennerMutations in the gene encoding Aprataxin are the second leading cause of an early onset hereditary ataxia termed ataxia-oculomotor apraxia 1. Early onset ataxias are progressive, neurological disorders, with the patients losing balance and motor coordination in their hands and legs, and suffering from other symptoms such as controlling ocular movements.
"As with many diseases for which genes were identified by positional cloning, one begins with insufficient information about the encoded protein that would allow one to formulate a disease hypothesis, let alone develop potential therapeutic strategies," said lead author Dr. Charles Brenner, associate professor of genetics and of biochemistry at Dartmouth Medical School.
Andy Nordhoff | EurekAlert!
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