Respiratory chain deficiency in nonmitochondrial disease. (June 2015)

• Record Type: Journal Article
• Authors: Pyle, Angela; Nightingale, Helen J.; Griffin, Helen; Abicht, Angela; Kirschner, Janbernd; Baric, Ivo; Cuk, Mario; Douroudis, Konstantinos; Feder, Lea; Kratz, Markus; Czermin, Birgit; Kleinle, Stephanie; Santibanez-Koref, Mauro; Karcagi, Veronika; Holinski-Feder, Elke; Chinnery, Patrick F.; Horvath, Rita
• Is Part Of: Neurology. Volume 1:Number 1(2015)
• Publication Date: 2015-06
• Subjects: Neurogenetics -- Periodicals; 616.80442
• DOI: 10.1212/NXG.0000000000000006
• Languages: English
• ISSNs: 2376-7839

Abstract

Abstract : Objective: In this study, we report 5 patients with heterogeneous phenotypes and biochemical evidence of respiratory chain (RC) deficiency; however, the molecular diagnosis is not mitochondrial disease. Methods: The reported patients were identified from a cohort of 60 patients in whom RC enzyme deficiency suggested mitochondrial disease and underwent whole-exome sequencing. Results: Five patients had disease-causing variants in nonmitochondrial disease genes ORAI1, CAPN3, COLQ, EXOSC8, and ANO10, which would have been missed on targeted next-generation panels or on MitoExome analysis. Conclusions: Our data demonstrate that RC abnormalities may be secondary to various cellular processes, including calcium metabolism, neuromuscular transmission, and abnormal messenger RNA degradation.