Barth Syndrome, cure search by Indian Scientist

Barth Syndrome, cure research

An orphan disease Barth Syndrome affecting male children is now curable. Dr Ashim Malhotra, an Indian scientist, at the Department of Anesthesiology, New York University Langone Medical Centre has discovered a putative cure Barth Syndrome. Dr Malhotra, was working with renowned scientist Dr Michael Schlame,said, "Barth Syndrome is a genetic disease that affects males, causing muscular and cardiac abnormalities."

Barth Syndrome is a rare and often under-diagnosed condition that is caused due to deficiency of a lipid called cardiolipin. Cardiolipin is present in each human cell in an organelle known as the mitochondria. Deficiency of cardiolipin results in mitochondrial aberrations which manifest as muscular weakness and cardiomyopathies (abnormalities of the heart)".

The discovery proposes the use of a chemical, BromoEnol Lactone (BEL) that prevents the natural degradation of cardiolipin, keeping its level higher than normal in the disease condition. Common fruit-fly was used as a model during the research for this human disease.

As the animal model for Barth Syndrome was lacking, this group of scientists genetically manipulated the common Fruit-Fly to result in cardiolipin deficiency. After showing that human symptoms of the disease were accurately mimicked in the fly model, Malhotra & others experimented with the common chemical, BEL, which inhibits the break-down of cardiolipin.

The group has shown that BEL treated patient cells were "rescued" from the disease. A similar approach was shown to be successful in the fly disease model. Although this work is a major break-through in the field, Dr. Malhotra said, "This is only a laboratory cure; whether this drug will be found suitable for use in humans and, indeed effective, remains to be seen.

The primary research article by Malhotra et al. was published in the prestigious peer-reviewed science journal Proceedings of the National Academy of Sciences of the USA (PNAS) in their January 21 issue.

On Monday, NBC’s "Today Show" featured Will McCurdy, a 23-year-old guy who is suffering from Barth Syndrome.

[quote] Born in 1986, Will McCurdy suffered numerous ailments, for which the McCurdy family took him to various doctors. Despite their efforts, none could exactly pinpoint the exact cause of Will’s symptoms.

After two years, when the McCurdy’s took Will to their pediatrician, the family was advised to head straight to the emergency room, on account of the fact that Will was supposedly in heart failure, and would need a transplant.

Kate McCurdy, Will’s mother, told Parade magazine that she remembered “wondering in the ER whether all this might lead to something bigger and broader.” When Will was discovered, in addition to his previous ailments, to have a white-blood-cell irregularity, the McCurdy family physician added up the symptoms--namely, muscular weakness and heart problems--and opted to consult medical literature.

There the physician found an article by Peter Barth, a Dutch neurologist, who had described Will’s symptoms exactly, based on his study of a single family, all with males facing similar health difficulties as Will. The McCurdy’s contacted Barth, telling him that Will had the exact same symptoms--metabolism distortion, delayed motor skills, stamina deficiency, etc--as the males described in his paper.

After seeing numerous doctors in order to treat Will, and after finding other families around the world who were struggling to care of family members with Barth’s Syndrome, the McCurdy’s opted to start the Barth Syndrome Foundation (BSF), a nonprofit organization with today holds international conferences with scientists in order to find a cure for the disorder.

Since then, Will, now 23, has graduated from high school, according to Parade magazine. Due to his ailments, he cannot hold down a full-time job, and, in 2007, was estimated to have spent one-third of the year in the hospital. However, because of the foundation, he doesn’t have to feel like he’s alone anymore. [/quote]