Thursday, May 26, 2011

Fragile X divides, entwines MSU student and sister

Ring the doorbell at a Bozeman duplex, and you'll find two sisters whose lives are both separated and entwined by a mutation in a single gene.

So begins the story of Amy and Marie DeBernardis by Montana State University News Service writer Evelyn Boswell.

“Amy DeBernardis, 28, lives downstairs with her golden lab, Beauty. She has Fragile X Syndrome, the most common form of inherited mental retardation, Boswell writes on the MSU News page.

“Symptoms vary by person, but they occur because one gene can’t produce enough of a protein that's needed by cells, especially brain cells.

“Marie DeBernardis, 22, lives upstairs. She doesn't have Fragile X, but spreads the word that Fragile X carriers can be detected with a simple blood test. A senior at Montana State University, Marie spent the last two summers at Stanford University, helping researchers study Fragile X.

Results of one study will be published in the Journal of Autism and Development Disorders. Results of the second have been submitted to the American Journal on Mental Retardation.”

Read the story here.

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