Pathogenesis of mtDNA point mutation m.10191T>C affecting complex I function is a multifactorial process leading to metabolic remodeling of mitochondria
Zeinab Alsadat Ahmadi, Alfredo Cabrera‐Orefice, Marta Zaninello, Esther Barth, Matteo Veronese, Richard J. Rodenburg, Elena I. Rugarli, Susanne Brodesser, Susanne Arnold, Ulrich Brandt
The paper investigates the pathogenic mutation m.10191T>C in mitochondrial DNA, showing it leads to reduced complex I function and NADH accumulation, contributing to Leigh syndrome.
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · Oct 10, 2025Peer-reviewedBiochemistry