Article
Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly.
Human molecular genetics - 15 Feb 2017
Friederich Marisa W, Erdogan Alican J, Coughlin Curtis R, Elos Mihret T, Jiang Hua, O'Rourke Courtney P, Lovell Mark A, Wartchow Eric, Gowan Katherine, Chatfield Kathryn C, Chick Wallace S, Spector Elaine B, Van Hove Johan L K, Riemer Jan
Abstract excerpt
An infant presented with fatal infantile lactic acidosis and cardiomyopathy, and was found to have profoundly decreased activity of respiratory chain complex I in muscle, heart and liver. Exome sequencing revealed compound heterozygous mutations in NDUFB10, which encodes an accessory subunit located within the PD part of complex I. One mutation resulted in a premature stop codon and absent protein, while the...
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