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The mtDNA T8993G (NARP) mutation results in an impairment of oxidative phosphorylation that can be improved by antioxidants.

Human molecular genetics - 15 Apr 2004

Mattiazzi Marina, Vijayvergiya Chetan, Gajewski Carl D, DeVivo Darryl C, Lenaz Giorgio, Wiedmann Martin, Manfredi Giovanni

Abstract excerpt

A T8993G point mutation in the mtDNA results in a Leu156Arg substitution in the MTATP6 subunit of the mitochondrial F1F0-ATPase. The T8993G mutation causes impaired oxidative phosphorylation (OXPHOS) in two mitochondrial disorders, NARP (neuropathy, ataxia and retinitis pigmentosa) and MILS (maternally inherited Leigh's syndrome). It has been reported, in some studies, that the T8993G mutation results in loss of...

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PMID: 14998933
DOI: 10.1093/hmg/ddh103

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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