Magazine article Science News

Found: Mutation for Deadly Nerve Disorder

Magazine article Science News

Found: Mutation for Deadly Nerve Disorder

Article excerpt

Two research teams have identified the genetic mutation that causes familial dysautonomia, a rare but devastating disease. Killing half of its victims by age 30, this inherited condition disrupts the nervous system's reflexive control of functions such as digestion and breathing The teams' studies will appear in the March AMERICAN JOURNAL OF HUMAN GENETICS.

The discovery paves the way for genetics screening of couples seeking to avoid passing the condition on to their children. says Felicia B. Axelrod, a pediatrician at New York University Medical Center who coauthored one of the reports About 1 in 30 Jews of European descent carries the mutation.

Many Jewish people already undergo screening for another mutation, one that causes the neural disorder Tay-Sachs disease Clinics will be able to use the same blood sample to test for familial dysautonomia, which is nearly as prevalent in this population as Tay-Sachs. "Once you have the DNA, it's very easy," says James F. Gusella, a molecular geneticist at Harvard Medical School and Massachusetts General Hospital in Boston. He coauthored the study with Axelrod

The findings will also spur research into potential treatments for people already beset by familial dysautonomia, says Berish Y Rubin, a molecular biologist at Fordham University in New York, who coauthored the other new study.

The affected gene is called IKBKAP When mutated, it encodes a defective version of a protein called IKAP While it's clear that lack of IKAP can cause familial dysautonomia, the normal function of the protein is unknown, Gusella says. The body might need IKAP to switch on or off various genes that ultimately affect nerve cells, he says.

If both,parents harbor the IKBKAP mutation, which is recessive, a child has a 1 in 4 chance of having the condition and a 50 percent chance of being a carrier of the defect. …

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