Defective 'MADD' gene responsible for type 2 diabetes, discovers Indian origin scientist

New York, Jan 5 (IANS) A lot of research has been done in the area of type 2 diabetes in recent times. At a time when the world is heading towards a diabetes epidemic, each of these breakthrough re

By: Admin | | Updated: January 6, 2014 10:34 am

New York, Jan 5 (IANS) A lot of research has been done in the area of type 2 diabetes in recent times. At a time when the world is heading towards a diabetes epidemic, each of these breakthrough research gives hope to the millions afflicted with the disease. While an Indian scientist Sanyog Jain was recently in the news for successfully managing to create an insulin pill, another scientist of Indian origin Bellur S Prabhakar from the University of Illinois is now in the news for the discovery that if a single gene is not functioning properly, insulin is not released into the bloodstream to regulate blood sugar levels – leading to type 2 diabeteHe found that dysfunction in a single gene called MADD in mice causes fasting hyperglycemia – one of the major symptoms of type 2 diabetes. Also Read - Does your child have Krabbe disease? An effective treatment may be here soon

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In a healthy person, beta cells in the pancreas secrete the hormone insulin in response to increases in blood glucose after eating. Prabhakar isolated several genes from human beta cells, including MADD, which is also involved in certain cancers. Also Read - Oral cancer drug may help combat COVID-19: Clinical trial on

“Small genetic variations found among thousands of human subjects revealed that a mutation in MADD was strongly associated with type 2 diabetes. People with this mutation had high blood glucose and problems of insulin secretion – the hallmarks of type 2 diabetes,” said Prabhakar. Read more about the symptoms, diagnosis and treatment of type 2 diabetes.

To study the role of MADD in diabetes, Prabhakar and his team 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,” said the study reported online in the journal Diabetes. Read more about insulin resistance.

“The cells were producing plenty of insulin, they just weren’t secreting it,” it added.

Prabhakar now hopes to investigate the effect of a drug that allows for the secretion of insulin in MADD-deficient beta cells.

“If this drug works to reverse the deficits associated with a defective MADD gene in the beta cells of our model mice, it may have potential for treating people with this mutation who have an insulin-secretion defect and/or type 2 diabetes,” he said.

Published : January 6, 2014 9:59 am | Updated:January 6, 2014 10:34 am

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