Sprechstunden/ Spezialsprechstunden am MGZ
Respiratory chain deficiency in nonmitochondrial disease
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 acohort 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, andANO10, which would have been missed on targeted nextgeneration 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.
Neurol Genet. 2015;1(1):e6.
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