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Article

Mitochondrial DNA heteroplasmy drives cortical neuronal disturbances in human organoids harbouring the common m.3243A>G mutation.

Nature communications - 21 Jun 2026

Hathazi Denisa, Lyons Camilla, Lagos Daniel, Podmanicky Oliver, Zarate-Mendez Mariana, Nie Yu, Müller Juliane S, Allinson Kieren S J, Naylor Huw, Lako Majlinda, Elsharkawi Ibrahim, Muffels Irena, Morava Eva, Kozicz Tamas, Chinnery Patrick, Lakatos András, Horvath Rita

Abstract excerpt

Mitochondrial diseases frequently affect the brain leading to severe and disabling neurological symptoms. The heteroplasmic m.3243 A > G mutation in MT-TL1, encoding mt-tRNALeu, is responsible for ~80% of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), which is one of the most characteristic mitochondrial syndromes, leading to disability and early death. There are no animal...

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Identifiers

PMID: 42324264
DOI: 10.1038/s41467-026-74103-y
PMCID: PMC13438594

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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