MYOCARDIAL HYPERTROPHY IN FRIEDREICH'S ATAXIA (FA) IS A FUNCTTON OF DURATION OF THE DISEASE AND THE LENGTH OF THE GAA TRINUCLEOTIDE REPEAT; A CROSS SECTIONAL MRI STUDY.

The article focuses on a study related to myocardial hypertrophy in Friedreich's Ataxia (FA). FA is the commonest autosomal recessive spinocerebellar ataxia and is associated with cardiomyopathy, which may be hypertrophic or dilated. FA is caused by a triplet expansion in the FA gene. The consequent reduction in frataxin levels, which is a mitochondrial protein, is associated with mitochondrial iron overload, increased sensitivity to oxidative stress, and profound deficit of oxidative phosphorylation. Researchers previously showed that phosphocreatine/ATP in human heart measured by MR spectroscopy is reduced in FA patients irrespective of evidence of cardiomyopathy and increased towards normal by treatment with CoQ1 0 and vitamin E.