ArticleJournal of medical genetics2006
Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency.
Article in Journal of medical genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed.
- Investigation of Mitochondrial Related Variants in a Cerebral Small Vessel Disease Cohort.Molecular neurobiology · 2022Article
- Leigh Syndrome: A Tale of Two Genomes.Frontiers in physiology · 2021Review
- Blackout in the powerhouse: clinical phenotypes associated with defects in the assembly of OXPHOS complexes and the mitoribosome.The Biochemical journal · 2020Review
- Whole blood transcriptomic profiles can differentiate vulnerability to chronic low back pain.PloS one · 2019Article
- Similar patterns of clonally expanded somatic mtDNA mutations in the colon of heterozygous mtDNA mutator mice and ageing humans.Mechanisms of ageing and development · 2014Article
- Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome.Genomics · 2013Article
- Mitochondrial DNA variant m.15218A > G in Finnish epilepsy patients who have maternal relatives with epilepsy, sensorineural hearing impairment or diabetes mellitus.BMC medical genetics · 2013Article
- MT-CYB mutations in hypertrophic cardiomyopathy.Molecular genetics & genomic medicine · 2013Article
- Divorcing the Late Upper Palaeolithic demographic histories of mtDNA haplogroups M1 and U6 in Africa.BMC evolutionary biology · 2012Article
- Article
- Defects in multiple complexes of the respiratory chain are present in ageing human colonic crypts.Experimental gerontology · 2010Article
- Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome.Journal of medical genetics · 2010Article
- The adaptive evolution of the mammalian mitochondrial genome.BMC genomics · 2008Article
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7 authors.
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Abstract
backgroundEnzyme deficiencies of the oxidative phosphorylation (OXPHOS) system may be caused by mutations in the mitochondrial DNA (mtDNA) or in the nuclear DNA.
objectiveTo analyse the sequences of the mtDNA coding region in 25 patients with OXPHOS system deficiency to identify the underlying genetic defect.
resultsThree novel non-synonymous substitutions in protein-coding genes, 4681T-->C in MT-ND2, 9891T-->C in MT-CO3 and 14122A-->G in MT-ND5, and one novel substitution in the 12S rRNA gene, 686A-->G, were found. The definitely pathogenic mutation 3460G-->A was identified in an 18-year-old woman who had severe isolated complex I deficiency and progressive myopathy.
conclusionsBioinformatic analyses suggest a pathogenic role for the novel 4681T-->C substitution found in a boy with Leigh's disease. These results show that the clinical phenotype caused by the primary Leber's hereditary optic neuropathy mutation 3460G-->A is more variable than has been thought. In the remaining 23 patients, the role of mtDNA mutations as a cause of the OXPHOS system deficiency could be excluded. The deficiency in these children probably originates from mutations in the nuclear genes coding for respiratory enzyme subunits or assembly factors.
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