Barth Syndrome (BTHS) is a rare and serious 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 causes cardiomyopathy, a disorder of the heart muscle. A team of researchers at Wayne State University has received funding from the Barth Syndrome Foundation to test a novel hypothesis that cardiolipin deficiency leads to disruption of the tricarboxylic acid (TCA) cycle, a series of enzyme-catalyzed chemical reactions that forms a key part of aerobic respiration in cells, leading to metabolic defects that have potential to be rescued by restoring TCA cycle deficiencies. Led by Miriam L. Greenberg, Ph.D., professor of biological sciences in the College of Liberal Arts and Sciences, the team hopes to find ways to restore the TCA cycle metabolites that may offer potential new treatments for the disorder.

http://www.news-medical.net/news/20120808/WSU-researchers-to-test-novel-hypothesis-that-cardiolipin-deficiency-leads-to-disruption-of-TCA-cycle.aspx
http://phys.org/wire-news/105808559/wayne-state-university-to-search-for-potential-drug-targets-to-t.html