MONDAY, Jan. 23 (HealthDay News) -- A genetic screen of nearly 300 descendants of President Abraham Lincoln's family has unearthed gene mutations that can cause the neurodegenerative disease spinocerebellar ataxia type 5 (SCA5), according to an online report in Nature Genetics. The finding may be useful for developing a genetic test and for understanding the mechanism of the disease.
Using a positional cloning technique, Laura Ranum, Ph.D., from the University of Minnesota Medical School in Minneapolis, and colleagues identified mutations in the beta-III spectrin gene in Lincoln's descendants, which include 90 members affected by the disease, and in German and French families with SCA5.
Beta-III spectrin stabilizes the glutamate transporter at the plasma membrane and is critical for glutamate signaling in Purkinje cells. The investigators found that expression of mutated versions of the gene in cultured cells disrupted glutamate transporter stabilization and could possibly lead to Purkinje cell death.
While it is not known if Lincoln himself was affected by the disease, which can cause uncoordinated movements and difficulty with speech and writing, biographical descriptions often mention his uneven gait. "Determining President Lincoln's status relative to SCA5 would be of historical interest, and would increase public awareness of ataxia and neurodegenerative disease," the authors conclude.
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