Article
The cytochrome b p.278Y>C mutation causative of a multisystem disorder enhances superoxide production and alters supramolecular interactions of respiratory chain complexes.
Human molecular genetics - 1 Jun 2013
Ghelli Anna, Tropeano Concetta V, Calvaruso Maria Antonietta, Marchesini Alessandra, Iommarini Luisa, Porcelli Anna Maria, Zanna Claudia, De Nardo Vera, Martinuzzi Andrea, Wibrand Flemming, Vissing John, Kurelac Ivana, Gasparre Giuseppe, Selamoglu Nur, Daldal Fevzi, Rugolo Michela
Abstract excerpt
Cytochrome b is the only mtDNA-encoded subunit of the mitochondrial complex III (CIII), the functional bottleneck of the respiratory chain. Previously, the human cytochrome b missense mutation m.15579A>G, which substitutes the Tyr 278 with Cys (p.278Y>C), was identified in a patient with severe exercise intolerance and multisystem manifestations. In this study, we characterized the biochemical properties of...
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