Article
Mitochondrial DNA mutations as a potential modifier for the clinical variability of Marfan syndrome.
QJM : monthly journal of the Association of Physicians - 1 Dec 2025
Wu Yuduo, Zhang Xu, Zhang Zhengyang, An Peng, He Yihua, Zhang Hongjia, Luo Yongting, Luo Junjie
Abstract excerpt
BACKGROUND: Marfan syndrome (MFS) is an autosomal genetic disease caused by FBN1 mutation. Patients with the same FBN1 mutation type exhibit different phenotypes, which indicates additional risk factors. Mitochondrial dysfunction was observed in the aorta of both MFS patients and Marfan murine models. Single-nucleotide variants in mitochondrial DNA (mtDNA) may have harmful consequences on a cell. AIM: This study...
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