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New understanding of Gaucher's disease

Agroup of investigators at the National Institute of Mental Health in Bethesda and Children's Hospital in Los Angeles has identified specific DNA base changes that determine the course of Gaucher's disease. This relatively common inherited disorder is a prime candidate for gene therapy, and the new finding should allow parents to decide whether their affected child is destined to develop a particularly severe form of the disease. The researchers, led by Edward Ginns of NIMH and John Barringer of Children's Hospital, published their findings in the 5 March issue oftheNew EnglandJournal of Medicine. Gaucher's disease is caused by a recessive mutation in the enzyme that cleaves glucose from the lipid portion of sphingolipids. But the disease can have three distinct manifestations. The most benign is type 1, in which the affected person has an enlarged spleen, bone pain, and fractures of the long bones, such as those of the legs. About 5% also have an enlarged liver. These are hardly innocuous symptoms. The normal spleen is about 1/2 pound and the size of a fist. Some Gaucher patients have 30-pound spleens. "You can see a baby whose spleen is half its body weight," Ginns says. The bone and joint problems can put patients in wheelchairs-Miss Wheelchair America of 1987 is a Gaucher patient. The children's enlarged livers resemble those of patients with cirrhosis, and when the blood tries to bypass the swollen liver, it goes to the esophagus where blood vessels become enlarged and may bleed, sometimes killing the patient. Patients with type 2 Gaucher's disease not only may have enlarged livers and spleens but also manifest neurological symptoms by the age of 6 months to a year. The children lose normal skills, such as rolling over, sitting up, and holding up their heads. As the disease progresses rapidly over the next year, the nerves of the brainstem degenerate and the children find it difficult to swallow or breathe. They die of respiratory complications by the time they are 2 years old. Type 3 patients have the enlarged spleens