ArticleHuman genetics2003
Increased variation in mtDNA in patients with familial sensorineural hearing impairment.
Article in Human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 40 citations in OpenAlex.
- Mitochondrial heteroplasmic shifts reveal a positive selection of breast cancer.Journal of translational medicine · 2023Article
- Novel Pathogenic Sequence Variation m.5789T>C Causes NARP Syndrome and Promotes Formation of Deletions of the Mitochondrial Genome.Neurology. Genetics · 2022Article
- Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly.Human molecular genetics · 2017Article
- Transfer RNA detection by small RNA deep sequencing and disease association with myelodysplastic syndromes.BMC genomics · 2015Article
- Mutations in the two ribosomal RNA genes in mitochondrial DNA among Finnish children with hearing impairment.BMC medical genetics · 2015Article
- Compound heterozygous PNPLA6 mutations cause Boucher-Neuhäuser syndrome with late-onset ataxia.Journal of neurology · 2014Article
- Bayesian network and mechanistic hierarchical structure modeling of increased likelihood of developing intractable childhood epilepsy from the combined effect of mtDNA variants, oxidative damage, and copy number.Journal of molecular neuroscience : MN · 2014Article
- 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
- Mitochondrial DNA sequence variation in Finnish patients with matrilineal diabetes mellitus.BMC research notes · 2012Article
- The role of the mitochondrial genome in ageing and carcinogenesis.Journal of aging research · 2011Article
- Naturally occurring mitochondrial DNA heteroplasmy in the MRL mouse.Mitochondrion · 2008Article
- Mitochondrial DNA sequence variation and mutation rate in patients with CADASIL.Neurogenetics · 2006Article
- Does the mitochondrial genome play a role in the etiology of Alzheimer's disease?Human genetics · 2006Article
- Mitochondrial DNA polymorphisms as risk factors for Parkinson's disease and Parkinson's disease dementia.Human genetics · 2004Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Analyses of mitochondrial DNA (mtDNA) sequences have revealed non-neutral patterns, suggesting that many amino acid mutations in animal mtDNA may be mildly deleterious, but this has not been verified in human clinical series. Since sensorineural hearing impairment (SNHI) is a common manifestation in many of the syndromes caused by mutations in mtDNA, this may be regarded as the phenotype of choice in attempts to detect mutations that may have a mildly deleterious effect on mitochondrial function. We selected 32 subjects from among 117 unrelated SNHI patients with SNHI in maternal relatives by means of family history, determined the entire coding region sequence of mtDNA and compared the sequence variation with that in 32 haplogroup-matched controls taken at random from 192 Finnish sequences. The 32 control sequences differed from the remaining 160 sequences by 36+/-9 substitutions (mean +/- SD), while the difference for the 32 patients was 58+/-4 substitutions ( P=0.005 for difference; Wilcoxon signed rank test). Differences were also found in the number of new haplotypes and new non-synonymous mutations or mutations in tRNA or rRNA genes. A total of 12 rare mtDNA variants were detected in the patients, and only 3 of these were considered to be neutral in effect. It is proposed that increased sequence variation in mtDNA may be a genetic risk factor for SNHI, and the increased frequency of rare haplotypes in these patients points to the presence of mildly deleterious mutations in mtDNA.
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