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Updated: Mar 17, 2026

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes
08:56

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes

Published on: October 10, 2025

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复合异质合体SDHA变体对神经系统疾病的小儿 mitochondrial 功能的影响

Rocío Garrido-Moraga1, Pablo Serrano-Lorenzo1, María J Esteban-Amo2

  • 1Spanish Network for Biomedical Research in Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain; Mitochondrial and Neuromuscular Research Group, '12 de Octubre' Hospital Research Institute (imas12), 28041 Madrid, Spain.

Mitochondrion
|March 15, 2026
PubMed
概括

两个新的SDHA基因变异导致线粒体功能障碍和儿童的神经症状. 这项研究在功能上验证了这些变体,将它们与原发性线粒体疾病和潜在的瘤发展联系起来.

关键词:
复合异构基突变是复合的异构基突变.线粒体功能障碍 线粒体功能障碍神经系统疾病 神经系统疾病在 SDHA 基因中,SDHA 基因被发现.

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