CoQ deficiency causes disruption of mitochondrial sulfide oxidation, a new pathomechanism associated with this syndrome

• DOI: 10.15252/emmm.201606345
• Publication Date: 2016-11-18T02:50:57Z
• Authors: Marta Luna‐Sánchez; Agustín Hidalgo‐G...; Tatjana M Hildebr...; Julio Chaves‐Serrano; Eliana Barriocana...; Ángela Santos‐Fan...; Miguel Romero; Ramy KA Sayed; Juan Duarte; Holger Prokisch; Markus Schuelke; Felix Distelmaier; Germaine Escames; Darío Acuña‐Castr...; Luis C López
• Keywords: Sulfurtransferase; Sulfite oxidase

Coenzyme Q (CoQ) is a key component of the mitochondrial respiratory chain, but it also has several other functions in cellular metabolism. One them to function as an electron carrier reaction catalyzed by sulfide:quinone oxidoreductase (SQR), which catalyzes first hydrogen sulfide oxidation pathway. Therefore, SQR may be affected CoQ deficiency. Using human skin fibroblasts and two mouse models with primary deficiency, we demonstrate that severe deficiency causes reduction levels activity, leads alteration In cerebrum Coq9R239X mice, deficit induces increase thiosulfate sulfurtransferase sulfite oxidase, well modifications thiols. As result, biosynthetic pathways glutamate, serotonin, catecholamines were altered cerebrum, blood pressure was reduced. this study reveals activity one pathomechanisms associated syndrome.