Juvenille Diabetes Gene Discovered

by ScienceDave | July 16, 2007 at 08:24 am
934 views | 21 Recommendations | 4 comments

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A fourth gene linked to Juvenille Diabetes has been discovered by a North American team, hailing from McGill University in Montreal and The Children's Hospital of Philadelphia.  In Canada, over 2 million people are affected by diabetes (that's around 7-8% of the total population), 10% of which are type I diabetes. [source]

Type 1 diabetes is typically diagnosed in children, and is characterized by the inability of the pancreas to produce any or sufficient amounts of insulin.  Insulin is a hormone required by the body to use energy in form of sugars (i.e. glucose), and allows glucose access to cells that need it.  However, for those with Type 1 diabetes, they must receive daily injections of insulin.

Imagine a child injecting a needle full of the hormone directly into their abdomen.

Type 1 diabetes is strictly a genetic disorder, and is not brought on by the consumptions of excess sugar or obesity as in Type 2.  The exact cause of Type 1 is currently unknown; however the recent discovery published in the scientific journal Nature sheds light on one hypothesized cause - an attack by the body's immune system on the cells responsible for creating insulin.

"The role of KIAA0350 [the newly discovered gene] needs to be investigated," said Hakonarson. "However, a special cell type called a natural killer (NK) cell expresses this gene abundantly, although at different levels based on these gene variants. Our hypothesis is that a special mutation in KIAA0350 may influence the sugar binding of the protein, and trigger an autoimmune response that activates these NK cells in such a way that they attack and destroy the islet cells in the pancreas, resulting in type 1 diabetes. A particular version of the gene protects against this inappropriate autoimmune response, while a different version of the gene makes it more likely to happen."

The importance of such a discovery is to help paint a genetic and molecular picture of diabetes in order to design novel treatment options in the future.

"If we know the gene pathways that give rise to type 1 diabetes, we hope to intervene early in life with targeted drugs or cell therapies to prevent the disease from developing," said Polychronakos.

 

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Jordan Yerman
Jordan Yerman
flagged this story as Good Stuff

at 09:03 on July 16th, 2007

Great work, as usual. I went to school with a guy who had type-1, and he had a normal, healthy life, but it required a lot of maintenance. Hopefully discoveries like this can make life easier for the kids of the hopefully-near future.

ryan
ryan
flagged this story as Good Stuff

at 09:53 on July 16th, 2007

nouseforadave, Good stuff. What a great discovery! Could this result in a cure or a just treatment?

0
ScienceDave

Good question.  I think this sort of work will help develop treatments in the future.  THe author's speculated there could easily be 10-15 more genes involved.  When it comes down to it, not much is known about the causes of this disorder.

Kaitlin
Kaitlin
flagged this story as Good Stuff

at 10:21 on July 16th, 2007

nouseforadave, thanks for posting this. It's encouraging to perceive a future where we can know more about this disease. I knew a girl growing up who had it and unfortunately passed away quite young. It would be nice to give future generations a better chance. Good stuff.

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