Gene Finding Enables Screening of Disease Affecting Some Jews
A genetic defect responsible for an inherited, and often fatal, neurological disease that affects Jews of Eastern European descent has been identified, allowing for widespread genetic screening.
One in 30 Ashkenazic Jews is believed to carry the mutation for Familial Dysautonomia, and with an estimated 10 million to 11 million Ashkenazic Jews worldwide, more than 300,000 could be carriers. The defect was found on chromosome 9.
Like better-known Tay-Sachs disease, a Jewish genetic disease that usually kills children before their fourth birthday, Familial Dysautonomia is passed on only when a child inherits two defective copies of the gene--one from each parent. About 1 in 25 Ashkenazic Jews carries the gene for Tay-Sachs, which also affects some non-Jewish French Canadians living near the St. Lawrence River and members of the Cajun community of Louisiana. Screening is common among Jewish couples of child-bearing age.
Familial Dysautonomia is a disorder of the autonomic nervous system that regulates such involuntary processes as swallowing and digestion, along with body temperature and blood pressure. Babies with the disorder have trouble sucking and swallowing. The disorder also interferes with perceptions of sensations such as pain and heat, which leaves sufferers vulnerable to getting burned if they’re near a flame or heat source. Symptoms also include excessive sweating, vomiting, frequent pneumonia and problems with speech, balance, and coordination. If drug treatment and other therapies are begun early, sufferers can avoid major disabilities. However, 50% of sufferers die before their 30th birthday.
A team of researchers from Fordham University in New York City, led by Berish Y. Rubin, is scheduled to publish its findings in the March issue of the American Journal of Human Genetics. However, a research group at the Massachusetts General Hospital in Boston released a statement saying it was first to identify the disease gene and that its findings also will appear in the same journal issue.
