Respiratory chain deficiency in nonmitochondrial disease.

Authors :: Pyle A
Nightingale HJ
Griffin H
Abicht A
Kirschner J
Baric I
Cuk M
Douroudis K
Feder L
Kratz M
Czermin B
Kleinle S
Santibanez-Koref M
Karcagi V
Holinski-Feder E
Chinnery PF
Horvath R
Source :: Neurology. Genetics [Neurol Genet] 2015 Apr 27; Vol. 1 (1), pp. e6. Date of Electronic Publication: 2015 Apr 27 (Print Publication: 2015).
Publication Year :: 2015
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.<br />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.<br />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.<br />Conclusions: Our data demonstrate that RC abnormalities may be secondary to various cellular processes, including calcium metabolism, neuromuscular transmission, and abnormal messenger RNA degradation.