CHICAGO, IL - In a significant discovery, a team of researchers led by an Indian-American has found that a single gene dysfunction in mice results in developing fasting hypoglycemia, one of the major symptoms of Type 2 diabetes. The discovery by researchers, led by Prof Bellur S Prabhakar, focused on a gene MADD for the study and may enable a new potential treatment for diabetes patients. If MADD is not functioning properly, insulin is not released into the bloodstream to regulate blood sugar levels, said Prabhakar, professor and head of microbiology and immunology at the University of Illinois, Chicago.
In previous work, Prabhakar isolated several genes from human beta cells, including MADD, which is also involved in certain cancers. Small genetic variations found among thousands of human subjects revealed that a mutation in MADD was strongly associated with Type 2 diabetes in Europeans and Han Chinese. People with this mutation had high blood glucose and problems of insulin secretion - the “hallmarks of type 2 diabetes”, Prabhakar said.
But it was unclear how the mutation was causing the symptoms, or whether it caused them on its own or in concert with other genes associated with Type 2 diabetes. To study the role of MADD in diabetes, Prabhakar and his colleagues developed a mouse model in which the MADD gene was deleted from the insulin-producing beta cells. All such mice had elevated blood glucose levels, which the researchers found was due to insufficient release of insulin. “We didn’t see any insulin resistance in their cells, but it was clear that the beta cells were not functioning properly,” Prabhakar said. Examination of the beta cells revealed that they were packed with insulin. “The cells were producing plenty of insulin, they just weren’t secreting it,” he said. Prabhakar said that the work shows that Type 2 diabetes can be directly caused by the loss of a properly functioning MADD gene alone. (PTI)
But it was unclear how the mutation was causing the symptoms, or whether it caused them on its own or in concert with other genes associated with Type 2 diabetes. To study the role of MADD in diabetes, Prabhakar and his colleagues developed a mouse model in which the MADD gene was deleted from the insulin-producing beta cells. All such mice had elevated blood glucose levels, which the researchers found was due to insufficient release of insulin. “We didn’t see any insulin resistance in their cells, but it was clear that the beta cells were not functioning properly,” Prabhakar said. Examination of the beta cells revealed that they were packed with insulin. “The cells were producing plenty of insulin, they just weren’t secreting it,” he said. Prabhakar said that the work shows that Type 2 diabetes can be directly caused by the loss of a properly functioning MADD gene alone. (PTI)