Dr Ashim Malhotra and Indian Scientist at the Department of Anesthesiology, New York University Langone Medical Centre has recently discovered a putative cure for the orphan disease Barth Syndrome which affects male children.
Dr Malhotra explains with renowned scientist Dr Michael Schlame that, "Barth Syndrome is a genetic disease that affects males, causing muscular and cardiac abnormalities."
The Barth Syndrome is rare and often under-diagnosed condition which appears due to the deficiency of a lipid called cardiolipin. Cardiolipin is present in human cell in an organelle known as the mitochondrion. Deficiency of cardiolipin results in mitochondrial aberrations which manifest as muscular weakness and cardiomyopathies and which causes abnormalities of the heart.
The current research prescribes the use of a chemical called BromoEnol Lactone (BEL) which will prevent the natural degradation of cardiolipin, and maintains the level higher than normal in the disease condition.
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