A new study identifies recessive, loss-of-function mutations in IDH3B, encoding a subunit of the NAD-specific isocitrate dehydrogenase, in individuals with retinitis pigmentosa. The lack of any obvious clinical signs in other tissues in these individuals forces a reassessment of the physiological role of this enzyme outside of the retina.
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Munnich, A. Casting an eye on the Krebs cycle. Nat Genet 40, 1148–1149 (2008). https://doi.org/10.1038/ng1008-1148
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DOI: https://doi.org/10.1038/ng1008-1148
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Complex hereditary spastic paraplegia associated with episodic visual loss caused by ACO2 variants
Human Genome Variation (2021)