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Genetic mutation causes familial susceptibility for degenerative brain disease
Date:1/6/2009

CINCINNATI Mutation of a gene that helps proteins migrate in and out of the cell's genetic command center the nucleus puts some families at higher risk for the degenerative brain disease acute necrotizing encephalopathy (ANE).

This is the conclusion of a global study to be published Jan. 9 by the American Journal of Human Genetics, and currently posted online, that was led by a researcher from Cincinnati Children's Hospital Medical Center.

Researchers investigated cases where otherwise healthy children developed ANE soon after contracting common childhood infections like influenza A or parainfluenza. The study showed the children had mutations of the RANBP2 gene, which has multiple jobs in the cell. Other members of the children's families, which had histories of familial or recurrent ANE, also carried the same mutation, said lead investigator Derek E. Neilson, M.D., a physician/researcher in the division of Human Genetics at Cincinnati Children's.

Still unclear is just how the mutation leads to ANE in predisposed families and individuals, according to the research team, which included investigators from 30 institutions in the United States and overseas. The RANBP2 gene encodes the RANBP2 protein, which is located on the cytoplasmic surface of what's known as the nuclear pore. It helps the nuclear pore bring proteins into and out of the nucleus, regulates critical steps of cell division, modifies the chemical makeup of other proteins, and interacts with components of energy production.

"This study opens new avenues of research, especially our unexpected finding that a missense mutation in part of the nuclear pore predisposes individuals to infection-triggered neurologic disease," said Dr. Neilson. "In order to prevent or lessen the neurological damage caused by ANE, it's very important to determine how missense mutations in RANBP2 predispose certain people to the disease."

The discovery also led the resea
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Contact: Nick Miller
nicholas.miller@cchmc.org
513-803-6035
Cincinnati Children's Hospital Medical Center
Source:Eurekalert

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