Gene Linked to Rare Inherited Early-Onset Diabetes

BLK gene normally enhances insulin production in response to glucose

WEDNESDAY, Aug. 12 (HealthDay News) -- A new gene affecting insulin production has been linked to a rare inherited form of early-onset diabetes, according to a study published online Aug. 10 in the Proceedings of the National Academy of Sciences.

To identify genes linked to the 15 percent of maturity-onset diabetes of the young (MODY) cases unlinked to known genes, Maciej Borowiec, Ph.D., from Harvard Medical School in Boston, and colleagues sequenced a large region of chromosome 8p23 that segregated with diabetes in six large MODY families lacking linkage to known MODY genes.

The researchers identified five mutations in the B-lymphocyte kinase (BLK) gene linked to diabetes. BLK was expressed in pancreatic β-cells and normally enhanced insulin synthesis and secretion in response to glucose. One mutation led to reduced insulin production, while the other four mutations potentially affected BLK levels.

"These findings point to BLK as a previously unrecognized modulator of β-cell function, the deficit of which may lead to the development of diabetes," Borowiec and colleagues conclude.

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Physician’s Briefing Staff

Physician’s Briefing Staff

Published on August 12, 2009

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