Magazine article Science News

Single Gene Causes Ataxia, Cancer Risk

Magazine article Science News

Single Gene Causes Ataxia, Cancer Risk

Article excerpt

Some toddlers toddle a lot not because of their youth, but because they have inherited a fatal neurological disorder, ataxia-telangiectasia (A-T). These children also suffer from involuntary movements and slurred speech. Moreover, they and perhaps their parents, who are carriers of A-T, face a higher than normal risk of cancer.

Now, researchers announce that mutations in a key segment of a single gene cause the disease. Earlier studies had suggested that A-T results from mutations of several genes.

"The identification of a single gene responsible for A-T should enable clinical geneticists to offer reliable diagnostic tests, including prenatal diagnosis and carrier detection to all A-T families," report Yosef Shiloh of the Sackler School of Medicine at Tel Aviv University and his colleagues in the June 23 Science. In the past year, he and his colleagues have tested a prenatal screen that he expects will now find broad use.

When both members of a couple carry the A-T mutated (ATM) gene, their children have a one in four chance of having the disease. Between 1 in 40,000 and 1 in 100,000 people develop the disorder. Certain groups, including Italians and Turks, have the higher incidence. A-T carriers, who inherit the defective gene from only one parent and don't develop the disease, form about 1 percent of the U.S. population.

A-T patients suffer from weak immune systems and premature aging, among other ills, and usually die in their teens or early twenties. …

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