Article

Cell-free mtDNA drives pyroptosis and inflammation in m.3243A>G mitochondrial disease models

2026-06-07

Abstract excerpt

Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) syndrome is primarily caused by the heteroplasmic m.3243A>G/ MT-TL1 pathogenic variant. Patients exhibit elevated circulating cell-free mtDNA (cf-mtDNA) in plasma, which acts as a damage-associated molecular pattern. Using patient-derived fibroblasts and neuronal progenitors, as well as transmitochondrial cytoplasmic hybrids (cybrids)...

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Literature Corpus work: 5b06cd39-7749-5cb7-bd1f-48d7a437c1e7
DOI: 10.64898/2026.06.03.729489

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