New research described details of how a diabetes-related gene functions on a biological pathway that affects the release of insulin. The study authors say that finding drugs that act on that pathway may eventually lead to a new treatment for type 1 diabetes.
“In 2007, our genomics team found the first gene in a genome-wide search to play a major role in type 1 diabetes, but we did not know its function,” said co-study leader Hakon Hakonarson, director of the Center for Applied Genomics at The Children’s Hospital of Philadelphia (CHOP). “Now we understand how this gene plays a critical role in regulating insulin metabolism.”
Doris Stoffers, M.D., Ph.D., of the Institute for Diabetes, Obesity and Metabolism of the Perelman School of Medicine at the University of Pennsylvania, was the co-senior author with Hakonarson, and is the corresponding author of the study, which appears online in Cell.
The current finding builds on the 2007 genome-wide association study (GWAS) by Hakonarson and colleagues at CHOP showing that variations in the KIAA0305 gene, also known as CLEC16A, correlate with higher risk of type 1 diabetes and other autoimmune diseases.
Hakonarson’s group subsequently developed a strain of mice in which the CLEC16A gene was deactivated. They then collaborated with Stoffers, an endocrinology expert, to breed a subset of the knockout mice in which only the pancreatic cells were affected.
The scientists show that the CLEC16A gene acts upon a pathway crucial to insulin secretion. CLEC16A normally helps protect mitochondria, the tiny energy-producing components of cells. When the CLEC16A gene is knocked out, damaged mitochondria are then digested, a process called mitophagy, and the resulting loss of energy output disrupts beta cells in the pancreas in their normal job of secreting insulin. “The ultimate result of the deletion of CLEC16A is an accumulation of unhealthy mitochondria, leading to less insulin being secreted by the beta cells,” said Stoffers.
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