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Type 1 Diabetes Genetic Risk May Be Caused by a Cell Mutation
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Type 1 Diabetes Genetic Risk May Be Caused by a Cell Mutation

June 23rd, 2014 Leonor Mateus Ferreira 0 comments

74776_webA group of researchers recently identified a gene that disrupts beta cells’ production of insulin, related to type 1 diabetes. The findings from the team, which included scientists from Baylor College of Medicine in Houston, may improve knowledge of how diabetes genes work.

The new diabetes study, published in the journal Cell, explores a new approach for keeping beta cells strong, as well as the genetic risk component of type 1 diabetes. The researchers have specifically studied a mutation in the Clec16a gene, suggesting that beta cells’ malfunctions are responsible for the disease.

“Rather than innocent bystanders to a malfunctioning immune system, our research shows beta cells are central players in the disease itself,” explained lead author Scott Soleimanpour, M.D., investigator at the University of Michigan’s Brehm Diabetes Research Center.

When beta cells, a type of cell located in the pancreas that stores and releases insulin, do not function properly, they may cause a defect in the gene Clec16a. Healthy mitochondria are therefore essential in the process, as they allow beta cells to produce insulin and control blood sugar levels, which is why “preserving beta cells is the top priority in diabetes care,” said Soleimanpour.

Type 1 diabetes is thought to be caused by a defect in the body’s immune system, which causes the destruction of pancreatic beta cells and the consequent malfunction of insulin production and conversion of food into energy. However, the researcher acknowledges that “scientists are starting to appreciate the importance of beta cells in understanding why type 1 diabetes occurs.”

Despite the lack of understanding about type 1 diabetes, the less common and unpreventable kind, “this new pathway will allow us to focus therapies on preserving healthy mitochondria within the beta cell to treat or prevent both type 1 and type 2 diabetes,” said Soleimanpour. The next step is to continue research on Clec16a mutations in both animal and human beta cells.

Soleimanpour suffers from type 1 diabetes himself, and has not only struggled with the disease for 30 years, but has also dedicated his career to studying it. The scientist has a laboratory at Perelman School of Medicine at the University of Pennsylvania, where his work on Clec16a began, and also practices as an endocrinologist, treating patients at the University of Michigan Health System.

In addition to Dr. Soleimanour and researchers from Baylor College of Medicine in Houston, senior author Doris Stoffers, M.D., Ph.D., professor of medicine at UP, as well as researchers from the Penn School of Veterinary Medicine, Lund University, and Skåne University Hospital in Sweden participated in the study.

The study was funded by the Margaret Q. Landenberger Foundation, the Charles H. Humpton, Jr. Endowment, the JDRF (Juvenile Diabetes Research Foundation), and the National Institute of Diabetes and Digestive and Kidney Diseases.

Diabetes is a disease characterized by abnormally high levels of glucose, or blood sugar, in the body. While type 2 diabetes is associated with age and obesity, type 1 is less common, unpreventable kind that usually affects children and young adults. The disease is one of the leading causes of morbidity and mortality in the United States and affects millions of people throughout the world.

As type 1 diabetes is less studied and understood by scientists, Texas Children’s Hospital announced last year that the husband and wife team Dr. Maria Bettini and Dr. Matt Bettini, two renowned immunologists, will lead the diabetes research at the hospital. Their work focuses on the immunological mechanisms that are responsible for the destruction of pancreatic cells in Type 1 Diabetes.

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Previous article UT Southwestern Researchers Discover Biomarker For Mesenchymal Stromal Cell Function In Human Body

Leonor Mateus Ferreira

Leonor Mateus Ferreira is an emerging, young journalist, with a Bachelor's degree in Communication and post-graduate degree in Multiplatform Journalism. She is particularly interested in politics and current affairs, and is currently studying for a masters degree in economics and public policies.

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