Gene variation increases SIDS risk in African Americans

About five percent of deaths from SIDS (sudden infant death syndrome) in African Americans can be traced to defects in one gene a research team based at the University of Chicago reports in the February 2006, issue of the Journal of Clinical Investigation.

A specific mutation, called Y1103, in a gene called SCN5A is associated with a dramatic, 24-fold increased risk of sudden infant death syndrome (SIDS) in African American infants. The authors show that this mutant protein, when exposed to acidic conditions (which can be caused by low blood oxygen levels when infants are placed in the face-down or "prone" sleeping position), malfunctions in a way that has been previously shown to trigger an irregular heartbeat in adults.

But SIDS is not purely genetic; it appears to require multiple "hits," some from altered genes and some from the environment.

"The hope," said Steven Goldstein, MD, PhD, professor and chairman of pediatrics at the University of Chicago and director of the study, "is that findings like this may one day allow us to intervene. We might screen to identify children at high risk and teach parents how to lessen the likelihood of secondary challenges. We have already begun to evaluate drugs that may mitigate the risk."

University of Chicago Hospitals: Gene variation increases SIDS risk in African Americans

Comments: Post a Comment

<< Home

This page is powered by Blogger. Isn't yours?