Mutations in CoA Synthase as a cause of NBIA

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Dusi et al (AJHG, 94, 11-22) report mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation (NBIA). This gene is particularly interesting, as another member of the CoA biosynthetic pathway, PANK2, also causes NBIA. It is not clear why a gene with such seemingly ubiquitous function should cause such specific neurologic abnormalities.

Since only about 70% of cases of NBIA have a known genetic etiology, perhaps other components of CoA synthesis will be implicated in the future.

Hilary Vernon, MD PhD

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