The Genetics of Maple Syrup Urine Disease

Research in the Danner laboratory is directed towards understanding the consequences of specific human genetic mutations that result in maple syrup urine disease (MSUD). The clinical phenotype shows a wide variation in expression regarding age of presentation and protein tolerance. All affected individuals require life-long dietary treatment with protein restriction. Now that many individuals are reaching their third and fourth decades, attention must also be given to the risk they may face in the aging process. All types of mutations have been described in the genes responsible for the disease and approximately 20% are due to errors in messenger RNA processing. We are defining the specific errors and seeking ways to correct these errors in order to provide new and better means for treating the disease. We are also defining regulative processes for gene expression seeking additional mechanisms that impair enzyme function. In other projects we are developing cell and animal models for the disease to broaden our means for exploring the effects of low protein diets on aging and anticipating the complications an individual with MSUD may face.

For More Information

Families with questions reguarding their participation in Dr. Danner's research studies are invited to contact the Emory Genetics Laboratory genetic counselor, Vanessa Rangel Miller. Ms. Miller may be reached at (404) 778-8552 or by email at vrangel@genetics.emory.edu. For more information on the clinical testing for MSUD offered by Emory Genetics Laboratory, please visit the Emory Genetics Laboratory website at genetics.web.emory.edu/testing.