Nat Genet. 2008 Oct;40(10):1230-4. Epub 2008 Sep 21.
Hartong DT, Dange M, McGee TL, Berson EL, Dryja TP, Colman RF.
We still have things to learn about the Krebs cycle….
Indeed, by studying families with Retinitis Pigmentosa, Hartong and colleagues identified individuals with functional defects in NAD-specific isocitrate dehydrogenase.
What is surprinsing is that these individuals do not have a generalized mitochondrial syndrome with encephalopathy (seen in homozygotes with defects of other enzymes of the krebs cycle) but the only affected organ is the retina. It is believed that elsewhere in the body, NADP-specific isocitrate dehydrogenase catalyzes the oxidation of isocitrate to alpha-ketoglutarate.
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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator