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Unlocking the genetic component to Type II diabetes

Research suggests that a protein may play large role in developing disease

Type II diabetes is commonly associated with poor lifestyle choices — principally a high sugar and fat diet or a lack of regular exercise. But recent studies have found an individual’s genes can also play a large role.

A study performed by the Karolinska Institute of Sweden discovered the key role of EBF1, a transcription factor, in regulating fat in a body and, therefore, one’s susceptibility to Type II diabetes.

“Transcription factors bind to specific sequences of DNA called promoters that code for protein synthesis, and thereby regulate expression of the particular protein,” said Dr. Ayotunde Dokun, an assistant professor of endocrinology and metabolism.

EBF1 regulates lipid or fat production within cells, which is crucial because if unregulated, excess lipid may leak out of cells. This fat can then accumulate within tissues that it should not, like muscle tissue, which ultimately leads these tissues to develop insulin resistance, Dokun said.

The study found a relationship between a low expression of EBF1 and large, hypertrophied fat cells that are prone to leaking.

“The study compared two overweight individuals with the same Body Mass Index and found that the individual with diabetes had a low number of large fat cells, consistent with EBF1 under-expression — whereas the individual who did not have diabetes had more fat cells which were less filled,” Dokun said.

The study doesn’t necessarily identify a cause to diabetes, but it does show that a decreased expression of EBF1 builds upon traditional causes like poor diet and lack of exercise.

Obesity can occur whether an individual has a high number of large fat cells or a high number of smaller fat cells, but individuals which more large fat cells are more likely to contract Type II diabetes, perhaps as a result of EBF1 under expression.

“In the future, research may be conducted to determine ways to manage EBF1 under-expression,” Dokun said.

Diabetes is enigmatic, as a host of environmental and genetic factors can potentially trigger the condition. But research efforts continue to piece together the identities, mechanisms and treatments for these factors.


Published June 8, 2014







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