Posted by: kellydh | July 15, 2007

Yet another type 1 gene…

From: Reuters UK

Scientists identify key gene in type 1 diabetes

Sun Jul 15, 2007 6:05PM BST

By Will Dunham

WASHINGTON (Reuters) – Scientists have pinpointed an important gene involved in increasing a child’s risk for type 1 diabetes, a discovery they said may lead to a way to prevent the development of the disease.

The researchers at the Children’s Hospital of Philadelphia and McGill University in Montreal said the new gene appears to be active almost exclusively in the body’s immune cells.

Writing on Sunday in the journal Nature, the researchers said they scanned the genomes of about 6,000 people, half of whom had type 1 diabetes, also called juvenile diabetes.

They confirmed the role of four genes previously implicated in raising risk for the disease, and identified a fifth gene, called KIAA0350, that they believe plays the biggest part of any of them in type 1 diabetes susceptibility.

While it has a link to immune function, the researchers say they are not sure exactly what the link is.

“It’s a gene of basically unknown function,” Dr. Hakon Hakonarson, director of the Center for Applied Genomics at Children’s Hospital of Philadelphia, who led the study, said in a telephone interview.

There are two versions of the gene, Hakonarson said. People with one version experience a 50 percent increase in risk for type 1 diabetes, while those with the other version are protected from the disease.


Greater understanding of the gene and other genetic factors underpinning type 1 diabetes could allow doctors to screen newborns with a family history of the disease to predict which babies may be at highest risk, the researchers said.

Type 1 diabetes is an autoimmune disease in which the body mistakenly destroys cells of the pancreas that produce insulin, a hormone that helps the body use glucose properly. It is usually diagnosed in childhood or early adulthood, and there is no cure.

Because babies who are destined to get type 1 diabetes are essentially born healthy, Hakonarson said, doctors may be able to intervene in some way to prevent the development of the disease.

Knowledge of the genetics of the disease also could lead to new treatments, Hakonarson said.

People with type 1 diabetes take insulin every day, usually through injections. But unless levels are precisely controlled, sugar builds up in the blood and damages nerves and organs.

People with the disease have a higher risk of getting heart disease, stroke, kidney failure, high blood pressure, blindness and other medical problems. Left untreated, it can be fatal.

Type 2 diabetes is a similar and more common disease in which the body becomes resistant to the action of insulin or the body produces inadequate amounts of insulin to maintain normal blood sugar level.

© Reuters 2006. All rights reserved. Republication or redistribution of Reuters content, including by caching, framing or similar means, is expressly prohibited without the prior written consent of Reuters. Reuters and the Reuters sphere logo are registered trademarks and trademarks of the Reuters group of companies around the world.


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