Single gene isolated that could mean new type 2 diabetes treatment

Kathleen Blanchard's picture
A single gene could cause type 2 diabetes for some

Type 2 diabetes is on the rise as researchers have been trying to uncover what causes the disease. Obesity if highly implicated as a risk for diabetes, yet many other factors contribute. Not all people with type 2 diabetes are obese, making it difficult to know how to prevent the disease. Now scientists have discovered alteration of a single gene causes type 2 diabetes in mice.

Dysfunction of MADD gene stops insulin release

The finding comes from researchers at University of Illinois at Chicago College (UIC) of Medicine and is published in the journal Diabetes.

In mouse studies Bellur S. Prabhakar, professor and head of microbiology and immunology at UIC and lead author of the paper and colleagues found mice developed hyperglycemia (high blood sugar) when they had dysfunction of one single gene.

The researchers developed a mouse model that was missing the MADD gene to discover they all had high blood sugar and

The gene implicated is called MADD. When the gene is not functioning properly insulin isn't released into the bloodstream to control blood sugar levels that stemmed from lack of insulin release.


Prabhaker previously isolated the gene and several others from human beta cells in the pancreas that are linked to cancer. Slight variations in the MADD gene was most strongly associated with type 2 diabetes in Europeans and Han Chinese. But according to Prabhaker it was uncertain whether the gene caused symptoms of type 2 diabetes on its own or if a combination of gene dysfunction contributed to high blood sugar levels.

Prabhakar said the beta cells were producing plenty of insulin but the pancreas just wasn't releasing the hormone.

“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.

What that means is that an aleration of a single gene causes high blood sugar that is a hallmark of type 2 diabetes. When the MADD gene is absent or dysfunctional blood sugar levels remain high and insulin can't leave the beta cells in the pancreas.

What the finding means for some people with type 2 diabetes

The finding could mean new hope for people with type 2 diabetes that stems from dysfunction of one single gene. Prabhakar is working on a compound that will stimulate insulin release.

"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.

Journal reference:
December 30, 2013


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