Newly Discovered Gene Linked to Type 1 Diabetes

According to a press release from the Children's Hospital of Philadelphia, they, along with McGill University, have discovered a gene that raises a child's risk for type 1 diabetes. This is important because it could help scientists create new, more effective treatments.

Before the discovery, four genes had been linked to type 1 diabetes, which means the child's immune system destroys the beta cells that produce insulin, requiring regular shots to balance the body's blood sugar. Researchers estimate that there are as many as 15 to 20 more genes linked to diabetes, and continue to search for them.

Hakon Hakonarson, M.D., Ph.D., the director of the Center for Applied Genomics at The Children's Hospital of Philadelphia and lead author of the study, said, "the genotyping technology we now have available has revolutionized the way we can ask and answer research questions. Unlike the previous technology, which was quite limited and dealt largely with relatively rare gene variants, we can now detect common genetic variants that are important in large numbers of individuals, and begin to understand how multiple genes interact in complex diseases such as diabetes."

1,046 children with type 1 diabetes were examined in the study and were compared to 1,146 control subjects.

The study confirmed the location for the four genes already linked to the disease, and discovered the new one on chromosome 16. The gene is titled KIAA0350. The study's findings were solidified by repeating the examination with children from the Type 1 Diabetes Genetics Consortium, which contains children of European and Canadian descent.

In the press release, Constantin Polychronakos, M.D., director of Pediatric Endocrinology at McGill University and senior author of the study, mentions that the discovery is important because it could allow infants with high risk of the disease to be screened.

Scientists are not completely sure of KIAA0350's function, but Hakonarson says, "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."

While more research needs to be done, this discovery is an important step in the treatment of type 1 diabetes, formerly known as juvenile diabetes.

According to the Children's Hospital of Philadelphia's website, they were founded in 1855 as the country's first hospital devoted to the care of children, and was ranked the best pediatric hospital in the nation by Child Magazine.

Sources:

http://www.prnewswire.com/cgi-bin/stories.pl?ACCT=104&STORY=/www/story/07-15-2007/0004625624&EDATE=

http://www.chop.edu/about_chop/index.shtml