Potential new target and drug candidate for Barth syndrome
In a Nature Metabolism paper published today, researchers from the University of Pittsburgh detail a potential new target and a small-molecule drug candidate for treating Barth syndrome, a rare, life-threatening and currently incurable genetic disease with devastating consequences.
Barth syndrome affects about 1 in every 300,000 to 400,000 babies born worldwide. Those with the condition have weak muscles and hearts and experience debilitating fatigue and recurrent infections.
Pitt researchers discovered that faulty mitochondria are at least partially to blame, and identified a molecular culprit that could be targeted to potentially reverse the disease course in the future.
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