ArticleBMC pediatrics2020
Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I.
Article in BMC pediatrics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it.
- A systematic review on the biochemical threshold of mitochondrial genetic variants.Genome research · 2024Pooled it
- Mitochondrial complex I deficiency-associated diseases and models.Cellular and molecular life sciences : CMLS · 2026Review
- Clinical Spectrum, Heteroplasmy-Phenotype Correlation, and Prognosis of the MT-ND3 m.10191 T > C Mutation.CNS neuroscience & therapeutics · 2026Article
- Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiency.American journal of human genetics · 2026Article
- Expanding the Clinical Spectrum of SCN8A-Related Epileptic Encephalopathy: Additional Auditory Impairment, Atypical MRI Abnormalities and Putative Mitochondrial Involvement.Journal of molecular neuroscience : MN · 2026Article
- Nuclear Genome-Encoded Mitochondrial OXPHOS Complex I Genes in Female Buffalo Show Tissue-Specific Differences.Molecular biotechnology · 2025Article
- Mitochondrial PTRH2 controls the deubiquitinase TRABID to regulate mt-ND5 stability and metabolism.PNAS nexus · 2025Article
- Article
- Exploring mitochondrial biomarkers for Friedreich's ataxia: a multifaceted approach.Journal of neurology · 2024Article
- Protein N-myristoylation plays a critical role in the mitochondrial localization of human mitochondrial complex I accessory subunit NDUFB7.Scientific reports · 2023Article
- Elucidating the Therapeutic Potential of Bis(Maltolato)OxoVanadium(IV): The Protective Role of Copper in Cellular Metabolism.International journal of molecular sciences · 2023Article
- Impact of the m.13513G>A Variant on the Functions of the OXPHOS System and Cell Retrograde Signaling.Current issues in molecular biology · 2023Article
- Case report: A rare variant m.4135T>C in theFrontiers in genetics · 2023Article
- Article
- RNA-seq transcriptome profiling of pigs' liver in response to diet with different sources of fatty acids.Frontiers in genetics · 2023Article
- Analysis of Human Clinical Mutations of Mitochondrial ND1 in a Bacterial Model System for Complex I.Life (Basel, Switzerland) · 2022Article
- HRAS germline mutations impair LKB1/AMPK signaling and mitochondrial homeostasis in Costello syndrome models.The Journal of clinical investigation · 2022Article
- Whole Mitochondrial Genome Analysis in Turkish Patients with Mitochondrial DiseasesBalkan medical journal · 2022Article
- Article
- The Phenotypic Spectrum of 47 Czech Patients with Single, Large-Scale Mitochondrial DNA Deletions.Brain sciences · 2020Article
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10 authors.
Funding
Abstract
backgroundMaternally inherited complex I deficiencies due to mutations in MT-ND genes represent a heterogeneous group of multisystem mitochondrial disorders (MD) with a unfavourable prognosis. The aim of the study was to characterize the impact of the mutations in MT-ND genes, including the novel m.13091 T > C variant, on the course of the disease, and to analyse the activities of respiratory chain complexes, the amount of protein subunits, and the mitochondrial energy-generating system (MEGS) in available muscle biopsies and cultivated fibroblasts.
methodsThe respiratory chain complex activities were measured by spectrophotometry, MEGS were analysed using radiolabelled substrates, and protein amount by SDS-PAGE or BN-PAGE in muscle or fibroblasts.
resultsIn our cohort of 106 unrelated families carrying different mtDNA mutations, we found heteroplasmic mutations in the genes MT-ND1, MT-ND3, and MT-ND5, including the novel variant m.13091 T > C, in 13 patients with MD from 12 families. First symptoms developed between early childhood and adolescence and progressed to multisystem disease with a phenotype of Leigh or MELAS syndromes. MRI revealed bilateral symmetrical involvement of deep grey matter typical of Leigh syndrome in 6 children, cortical/white matter stroke-like lesions suggesting MELAS syndrome in 3 patients, and a combination of cortico-subcortical lesions and grey matter involvement in 4 patients. MEGS indicated mitochondrial disturbances in all available muscle samples, as well as a significantly decreased oxidation of [1-
conclusionsMaternally inherited complex I deficiencies were found in 11% of families with mitochondrial diseases in our region. Six patients manifested with Leigh, three with MELAS. The remaining four patients presented with an overlap between these two syndromes. MEGS, especially the oxidation of [1-
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