Magazine article Science News

Gene Defect Located for Gaucher's Disease

Magazine article Science News

Gene Defect Located for Gaucher's Disease

Article excerpt

Gene defect located for Gaucher's disease

Using recently developed methods forgenetic analysis, scientists have located a rare gene defect that often leads to a potentially fatal enzyme deficiency in infants. Shoji Tsuji of the National Institute of Mental Health (NIMH) and his colleagues tracked the mutation to a site on chromosome 1.

The finding will improve genetic counselingfor victims of the the most serious forms of Gaucher's disease, which is caused by the enzyme deficiency, report the researchers in the March 5 NEW ENGLAND JOURNAL OF MEDICINE.

The enzyme in question, glucocerebrosidase,breaks down a critical fat in certain body tissues. When the undegraded fat builds up, it can cause several types of Gaucher's disease. Type 1, the most common form, is characterized by an enlarged spleen and liver, and bone deterioration. The genetic mutation for type 1 is carried by one in 600 Jews of Eastern European ancestry. Type 2 kills infants by about 2 1/2 years of age, often because motor and respiratory control is severely hindered. In type 3, nonfatal neurological symptoms, including epilepsy, dementia and difficulty in controlling eye movements, begin during adolescence. Most of the estimated 10,000 to 20,000 people in the United States with Gaucher's disease have relatively mild cases of type 1. About 2 percent have types 2 or 3.

All three types are known to resultfrom mutations in the gene that codes for glucocerebrosidase. The investigators cloned the sequence of chemical subunits that determine protein production for a normal glucocerebrosidase gene and compared it with a sequence cloned from a patient with type 2 Gaucher's disease. An alteration at just one location was identified in the latter sequence. This chemical substitution leads to the synthesis of an abnormal enzyme that fails to break down the key fat in body tissues. …

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