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Scripps Research scientists reveal how genetic mutations may cause type 1 diabetes
Date:4/19/2010

LA JOLLA, CA April 19, 2010 Scientists from The Scripps Research Institute have provided an answer to the 40-year-old mystery of how certain genetic mutations lead to Type 1 diabetes. This new molecular understanding could lead to novel therapies for Type 1 diabetes and other autoimmune diseases.

The study was published in an advanced, online issue of the Journal of Clinical Investigation on April 19, 2010, and will appear in the May print edition of the journal.

"People have been looking for the mechanism linking HLA and autoimmunity for 40 years," said Scripps Research Professor Luc Teyton, who led the study with Scripps Research Professor Ian Wilson. "This study provides a big leap forward in understanding and suggests a critical new target to intervene in type 1 diabetes."

Teyton notes that his lab has been trying to solve the mystery of autoimmune mechanisms and related conditions like celiac disease for some 25 years.

A Life-Threatening Condition

This new study focuses on Type 1, or insulin-dependent diabetes, a rapidly progressive disease of the young that leads to high blood sugar, coma, and death if not treated with replacement insulin.

Type 1 diabetes occurs when the body's immune system attacks insulin-producing β cells in the pancreas. Without insulin, the glucose in the bloodstream increases dramatically; early symptoms are unusual thirst, increased output of urine, fatigue, and unusual hunger accompanied by weight loss.

Currently, the only therapy available is to compensate for the destruction of the body's insulin-producing cells by injecting insulin on an ongoing basis.

While genes predispose people to many different types of diseases in many different ways, specific genetic variations are an especially strong predictor of the development of type 1 diabetes. Three genetic variations in particular (HLA-DQ2, HLA-DQ8, and HLA-DR0405)all located in the region of
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Contact: Keith McKeown
kmckeown@scripps.edu
858-784-8134
Scripps Research Institute
Source:Eurekalert

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