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Faulty Gene In Immune Cells Implicated In Childhood Diabetes |
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Written by Neil Simmons
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Tuesday, 17 July 2007 |
One of the most vexed illnesses that plagues children is Type 1 diabetes otherwise known as juvenile diabetes. It is a condition whose cause has eluded scientists until recently when four genes were discovered to play a key role in its development.
Now a team of US and Canadian researchers have found a fifth gene located on Chromosome 16, which is believed to be responsible for causing type 1 diabetes in children.
Type 1 diabetes often begins in childhood and is a debilitating condition. Those affected by Type 1 diabetes are dependent on insulin for almost all of their lifetime because the body's ability to make insulin is defective in such patients. Generally type 1 diabetes is considered to be an autoimmune disease, where the body's own immune cells turn against the beta cells in pancreas, which make insulin.
Insulin is a hormone that plays a vital part in the breakdown of glucose. With no insulin to speak of the body cannot convert sugar into simpler products leading to diabetes. Such patients are also at a risk of developing cardiovascular disease, kidney failure and blindness.
Type 1 diabetes can often be fatal unless insulin is supplied externally. In such a scenario it is evident that much interest has been evinced in the genetics behind type 1 diabetes. Reporting in the Sunday issue of the journal Nature, researchers from the Children's Hospital of Philadelphia and McGill University in Montreal said they had identified a gene variant called KIAA0350 as being responsible for type 1 diabetes.
They added that the presence of this variant might be responsible for a 50 percent hike in a child's susceptibility to the condition. Researchers scanned the genome of 1,000 pediatric diabetes patients and compared the results with 1,200 healthy children and 1,000 parents of diabetic children.
An area on chromosome 16 was found to contain a gene variant eventually called the KIAA0350 gene. Lead researcher Hakon Hakonarson, director of The Children's Hospital of Philadelphia's Center for Applied Genomics said that there were three markers for this gene located right in its center.
He also said the researchers noted the 550,000 known mutations and were able to confirm the role of eight previously found genes implicated in causing type 1 diabetes. These findings were also confirmed in a separate study involving 1,600 diabetes patients.
Hakonarson and colleagues stress that they were unable to find the protein involved with the KIAA0350 gene, but added that many labs will now look closely at this situation.
Type 1 diabetes affects an estimated 20.8 million people in the U.S. Every year some 13,000 children are diagnosed with the disease.
When a patient is diagnosed with type 1 diabetes or juvenile onset diabetes, the only recourse is to start off insulin therapy. The blood sugar levels are monitored every few hours and sometimes patients require as many as five injections a day to control rising blood sugar levels.
Understanding the genetics of the disease will help researchers develop new treatment modes to tackle type 1 diabetes. Recently stem cell transplantation has been advocated to produce insulin-making beta cells in patients suffering from type 1 diabetes.
However until the cause of the disease if\s properly identified and the mechanism behind it studied, it appears that insulin is the only recourse for millions of type 1 diabetes sufferers.
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