Gene Related to Defective Pancreas Identified

Researchers have identified a gene that when mutated gives rise to Shwachman-Diamond syndrome (SDS), an autosomal recessive disorder with clinical features that include pancreatic exocrine insufficiency, hematological dysfunction, and skeletal abnormalities. Their finding was reported December 23, 2002, in the online edition of Nature Genetics.

SDS is a relatively rare genetic disorder that occurs in approximately one in 50,000 births. While it affects many organs in the body, a primary feature is a defect in the pancreas that leads to difficulty in digestion. Hematologic problems and skeletal abnormalities also occur.

Investigators at the University of Toronto (Canada) studied 250 Shwachman-Diamond syndrome families from around the world and identified two major disease-causing mutations in the SBDS gene located on chromosome 7. They showed that SBDS had a 1.6-kb transcript and encoded a predicted protein of 250 amino acids.

"The identification of the gene is important because it will allow for accurate diagnosis and screening of Shwachman-Diamond syndrome. It will also help us to determine what goes wrong at the molecular level, and this will open the door to the development of new therapies,” explained senior author Dr. Johanna Rommens, associate professor of molecular and medical genetics at the University of Toronto.



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