Article
Novel mutations in MTERF3: First report of a new genetic cause in two Chinese patients with developmental delay, intermittent hypoglycemia and metabolic acidosis.
Mitochondrion - 1 Nov 2025
Duan Ruoyu, Mahlatsi Refiloe Laurentinah, Wang Ya, Xu Chaolong, Wang Mingzhao, Zou Zhuo, Liu Zhimei, Jiang Huafang, Duan Xin, Deng Jie, Song Minhan, Liu Yun, Fang Hezhi, Lyu JianXin, Fang Fang
Abstract excerpt
MTERF3, a negative regulator of mtDNA transcription, was first identified in 2007.Recent studies have revealed the pivotal role of MTERF3 throughout the entire lifecycle of mtDNA. However, no disease phenotypes have been linked to this gene till now. Genetic testing was performed on two unrelated families. Mitochondrial respiration and OXPHOS complex activity were assessed in patient-derived fibroblasts. An...
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