Wayne State researchers receive grant to develop new treatments for Barth syndrome

Wayne State researchers receive grant to develop new treatments for Barth syndrome

Reviewed by Kate Anderton, B.Sc. (Editor) Feb 16 2020 Barth syndrome (BTHS) is a rare and life-threatening, X-linked genetic disorder that primarily affects males and is passed from mother to son; women who are carriers do not show symptoms of the disorder. Fifty percent of children born to a mother who is a carrier will inherit the defective gene, and all daughters born to an affected man will be carriers. BTHS is caused by a mutation in the tafazzin gene that results in decreased production of cardiolipin, an essential lipid for energy metabolism. A team from Wayne State University, led by Miriam Greenberg, Ph.D., professor of biological sciences in the College of Liberal Arts and Sciences, recently received a grant from the National Heart, Lung, and Blood Institute of the National Institutes of Health to work on potential new targets for treating Barth syndrome. The four-year, nearly $1.5 million award, "The role of cardiolipin in the TCA (tricarboxylic acid) cycle: Implications for Barth syndrome," aims to identify specific metabolites as candidates for new treatments for Barth syndrome and other cardiomyopathies. Related Stories



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