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A Heteroplasmic MT-CO2 m.8024G > A Variant Is Associated with Mitochondrial Bioenergetic Deficiency and Optic Atrophy.

Molecular neurobiology - 4 Mar 2026

Wu Jing, Pan Cunhui, Zhu Ruowei, Huang Xi, Lou Xiaoting, Yang Li

Abstract excerpt

Leber's hereditary optic neuropathy (LHON) is a hereditary neurodegenerative disorder caused by pathogenic mitochondrial DNA (mtDNA) variants. While MT-CO2 defects are implicated in neurodegeneration, their direct association with optic atrophy has not been reported. We identify a heteroplasmic MT-CO2 variant, m.8024G > A (p.Glu147Lys), in a patient with progressive optic atrophy and explore its potential...

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PMID: 41779224
DOI: 10.1007/s12035-026-05774-3

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