Respiratory chain deficiency in nonmitochondrial disease

Angela Pyle, Helen J. Nightingale, Helen Griffin, Angela Abicht, Janbernd Kirschner, Ivo Baric, Mario Cuk, Konstantinos Douroudis, Lea Feder, Markus Kratz, Birgit Czermin, Stephanie Kleinle, Mauro Santibanez-Koref, V. Karcagi, Elke Holinski-Feder, Patrick F. Chinnery, Rita Horvath

Research output: Contribution to journalArticle

9 Citations (Scopus)

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 mitochon-drial 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.

Original languageEnglish
Article numbere6
JournalNeurology: Genetics
Volume1
Issue number1
DOIs
Publication statusPublished - Jun 1 2015

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Electron Transport
Exome
Mitochondrial Diseases
RNA Stability
Calcium
Phenotype
Messenger RNA
Enzymes
Genes

ASJC Scopus subject areas

  • Clinical Neurology
  • Genetics(clinical)

Cite this

Pyle, A., Nightingale, H. J., Griffin, H., Abicht, A., Kirschner, J., Baric, I., ... Horvath, R. (2015). Respiratory chain deficiency in nonmitochondrial disease. Neurology: Genetics, 1(1), [e6]. https://doi.org/10.1212/NXG.0000000000000006

Respiratory chain deficiency in nonmitochondrial disease. / 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, V.; Holinski-Feder, Elke; Chinnery, Patrick F.; Horvath, Rita.

In: Neurology: Genetics, Vol. 1, No. 1, e6, 01.06.2015.

Research output: Contribution to journalArticle

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 2015, 'Respiratory chain deficiency in nonmitochondrial disease', Neurology: Genetics, vol. 1, no. 1, e6. https://doi.org/10.1212/NXG.0000000000000006
Pyle A, Nightingale HJ, Griffin H, Abicht A, Kirschner J, Baric I et al. Respiratory chain deficiency in nonmitochondrial disease. Neurology: Genetics. 2015 Jun 1;1(1). e6. https://doi.org/10.1212/NXG.0000000000000006
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, V. ; Holinski-Feder, Elke ; Chinnery, Patrick F. ; Horvath, Rita. / Respiratory chain deficiency in nonmitochondrial disease. In: Neurology: Genetics. 2015 ; Vol. 1, No. 1.
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