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Updated: Aug 14, 2026

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes
Published on: October 10, 2025
[Mitochondrial encephalomyopathies]
Jacqueline Mikol1, Marc Polivka
1Service d'Anatomie et Cytologie Pathologiques, Hôpital Lariboisière, Paris. jacqueline.mikol@lrb.ap-hop-paris.fr
Abstract:
Mitochondrial encephalomyopathies include various syndromes involving both muscles and the nervous system. They are characterized by morphological and/or functional mitochondrial abnormalities. Relevant histological modifications in muscle are ragged-red fibers with or without cytochrome C oxidase (COX) activity. Neuropathological alterations in the brain are not specific. They consist of spongiosis with or without preferential involvement of territories of "system degeneration", neuronal loss, focal necrosis, capillary proliferation and mineral deposits. Their topographic patterns are characteristic of each syndrome. Mitochondrial encephalomyopathies are due to defects in mitochondrial DNA, sporadic, with maternal inheritance or defects in nuclear DNA with mendelian inheritance. The first group is more frequent including MERRF, MELAS, KEARNS-SAYRE, and some LEIGH syndromes. LEIGH syndrome is also the most frequent in the second group. However, in accordance with the progress in molecular genetics, these syndromes might be reclassified.
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