Barth Syndrome and Neutropenia

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Barth Syndrome is an X-linked disorder caused by loss-of-function mutations in the tafazzin gene. This results in abnormal cardiolipin, one of the major components of the mitochondrial membrane. The most prominent clinical features of this disease include cardiomyopathy and neutropenia, but the underlying mechanisms leading to these clinical features are not well understood. Makaryan et al. in the European Journal of Haematology offer in vitro evidence that dysregulated mitochondrial membrane potential and increased apoptosis of myeloid progenitor cells underlie the neutrophil abnormalities seen in this disorder. They found that the in vitro defect could be partially corrected with caspase-specific inhibitors. This work offers new insight in to potential new treatment targets for Barth Syndrome induced neutropenia. (Eur J Haematol. 2012 Mar;88(3):195-209)

Hilary Vernon, MD PhD

http://dx.doi.org/10.1036/ommbid.127

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