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Gene Mutations Identify African-Americans Pre-Determined for Diabetes

Blood samples were analyzed for differences (mutations) in DNA and RNA that affect the level of gene expression. The result of these mutations would cause the individual to be less able to metabolize carbohydrates.

For years, scientists have tried to determine the basis for discrepancies between race and the predisposition for development of diseases such as Type 2 diabetes and cardiovascular disease. Could factors such as differences in lifestyle or access to health care play a role, or is there something else in play?

Researchers at the University of North Carolina at Chapel Hill School of Medicine believe the latter may be true, in part, due to a recent discovery that suggests inherited genetic variations exist between whites and blacks living in the U.S., leading to less efficient metabolism of glucose and predisposition to diabetes in the blacks.

“We found gene expression profiles that suggest that carbohydrate metabolism should be different in the African-Americans in our population compared to Caucasians,” said Cam Patterson, M.D., chief of cardiology and director of the McAllister Heart Institute at UNC.

The researchers made the discovery while performing RNA and DNA analyses of blood samples taken from patients undergoing treatment in the cardiac catheterization lab at UNC. “We didn’t set out to look at differences in genetics or gene expression based on race or ethnicity. We were looking at the major factors that were contributing to differences in gene expression across all the patients we were studying,” Patterson says.

Comparing blood samples taken from black and white patients led to two striking findings, said Patterson. “First, it was apparent that there was a subset of patients in the study whose RNA profile included specific inhibition of some genes known to be involved in glucose metabolism. Secondly, and surprisingly, when the race of these patients with inhibited glucose metabolizing genes was revealed, it was apparent that the majority of these patients were of African-American descent.”

Knowing, however, that genetic changes often don’t equate with physiological implications, the researchers continued their genetic comparison between patients to determine if there was any indication that the variation in glucose metabolizing genes might lead to health-related differences in these racially distinct patient groups. “We tested that functionally by looking at markers known to be related to diabetes, and we found indeed that there was more disregulation of blood glucose levels in the African-Americans in our study,” Patterson said.
PLoS December 9, 2009,  Jonathan C. Schisler, Ph.D.