Research Sheds Light on Rare Genetic Disorder

Williams-Beuren syndrome causes mental, cardiac impairment

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THURSDAY, Oct. 5, 2006 (HealthDay News) -- Insight into a key protein is helping experts better understand a rare cognitive disorder called Williams-Beuren syndrome.

People with this syndrome have unusual facial appearance, heart problems, and a form of mental retardation that makes them talkative, sociable and empathetic but also causes them to have a lack of spatial awareness.

Williams-Beuren syndrome, which occurs in about one in 25,000 births, is caused by a deletion of a small section of chromosome 7 that contains several genes, including the gene that encodes for the TFII-I protein.

It was already known that TFII-I helps control a cell's genes. Now, a team at Johns Hopkins University in Baltimore has found that the protein also controls how much calcium a cell takes in. This function is critical for all cells, including nerve cells in the brain.

"While the previously described function of TFII-I very well also could contribute to the cognitive defects of Williams-Beuren syndrome, its role controlling calcium makes much more sense," Dr. Stephen Desiderio, professor of molecular biology and genetics and director of the Institute of Basic Biomedical Sciences at Hopkins, said in a prepared statement.

He noted that other studies have suggested that defects in a cell's ability to take in calcium can cause neurological and behavioral problems.

The Hopkins study is published in the Oct. 6 issue of the journal Science.

More information

The U.S. National Library of Medicine has more about Williams-Beuren syndrome.

SOURCE: Johns Hopkins Medicine, news release, Oct. 5, 2006

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