UQCRC2-related mitochondrial complex III deficiency, about 7 patients.
Claire Bansept, Pauline Gaignard, Elise Lebigot, Didier Eyer, Geoffroy Delplancq, Célia Hoebeke, Karin Mazodier, Anaïs Ledoyen, Cécile Rouzier, Konstantina Fragaki, Samira Ait-El-Mkadem Saadi, Christophe Philippe, Ange-Line Bruel, Laurence Faivre, François Feillet, Marie-Thérèse Abi Warde
Mitochondrion 2023 JanIsolated complex III defect is a relatively rare cause of mitochondrial disorder. New genes involved were identified in the last two decades, with only a few cases described for each deficiency. UQCRC2, which encodes ubiquinol-cytochrome c reductase core protein 2, is one of the eleven structural subunits of complex III. We report seven French patients with UQCRC2 deficiency to complete the phenotype reported so far. We highlight the similarities with neoglucogenesis defect during decompensations - hypoglycaemias, liver failure and lactic acidosis - and point out the rapid improvement with glucose fluid infusion, which is a remarkable feature for a mitochondrial disorder. Finally, we discuss the relevance of coenzyme Q10 supplementation in this defect. Copyright © 2019 Elsevier B.V. and Mitochondria Research Society. All rights reserved. All rights reserved.
Citation
Claire Bansept, Pauline Gaignard, Elise Lebigot, Didier Eyer, Geoffroy Delplancq, Célia Hoebeke, Karin Mazodier, Anaïs Ledoyen, Cécile Rouzier, Konstantina Fragaki, Samira Ait-El-Mkadem Saadi, Christophe Philippe, Ange-Line Bruel, Laurence Faivre, François Feillet, Marie-Thérèse Abi Warde. UQCRC2-related mitochondrial complex III deficiency, about 7 patients. Mitochondrion. 2023 Jan;68:138-144
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PMID: 36509339
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