Complex I deficiency and Leigh syndrome through the eyes of a clinician
Open Access
- 30 October 2020
- journal article
- editorial
- Published by Springer Science and Business Media LLC in EMBO Molecular Medicine
- Vol. 12 (11), e13187
- https://doi.org/10.15252/emmm.202013187
Abstract
Mitochondrial complex I deficiency is associated with a wide range of clinical presentations, including Leigh syndrome. Its genetic causes are heterogeneous, with poor genotype–phenotype correlation. It is impossible to identify the genetic defect of complex I deficiency using clinical observation and metabolic/imaging studies alone. As a result, whole‐exome sequencing (WES) is increasingly used in clinical work to identify an underlying genetic defect causing the disease. The article in this issue of EMBO Molecular Medicine by Alahmad et al (2020) is timely and valuable, as it expands on the genotype of mitochondrial complex I deficiency by identifying and characterising pathogenic variants of the NDUFC2 gene in children with Leigh syndrome.Funding Information
- Eesti Teadusagentuur (PRG471)
This publication has 11 references indexed in Scilit:
- Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex IEMBO Molecular Medicine, 2020
- Single‐domain antibodies targeting antithrombin reduce bleeding in hemophilic mice with or without inhibitorsEMBO Molecular Medicine, 2020
- Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11European Journal of Medical Genetics, 2018
- Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in EstoniaMolecular Genetics and Metabolism Reports, 2018
- Leigh map: A novel computational diagnostic resource for mitochondrial diseaseAnnals of Neurology, 2017
- A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemiaBlood, 2016
- Mitochondrial complex I-linked diseaseBiochimica et Biophysica Acta (BBA) - Bioenergetics, 2016
- A guide to diagnosis and treatment of Leigh syndromeJournal of Neurology, Neurosurgery & Psychiatry, 2013
- Complex I deficiency: clinical features, biochemistry and molecular geneticsJournal of Medical Genetics, 2012
- Leigh syndrome: Clinical features and biochemical and DNA abnormalitiesAnnals of Neurology, 1996