ArticleHuman genetics2006
A reappraisal of complete mtDNA variation in East Asian families with hearing impairment.
Article in Human genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed.
- Evolutionary persistence of a highly prevalent multicopy mitochondrial-derived nuclear insertion (Mega-NUMT) in Neotropical Drosophila flies.Molecular biology and evolution · 2026Article
- Association analysis of mitochondrial DNA heteroplasmic variants: Methods and application.Mitochondrion · 2024Article
- High prevalence of m.1555A > G in patients with hearing loss in the Baikal Lake region of Russia as a result of founder effect.Scientific reports · 2024Article
- Increased risk of hearing loss associated with MT-RNR1 gene mutations: a real-world investigation among Han Taiwanese Population.BMC medical genomics · 2024Article
- Association analysis of mitochondrial DNA heteroplasmic variants: methods and application.medRxiv : the preprint server for health sciences · 2024Article
- [Progress in genetic susceptibility to aminoglycoside-induced deafness].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2021Review
- PharmGKB summary: very important pharmacogene information for MT-RNR1.Pharmacogenetics and genomics · 2016Review
- 'Infertile' studies on mitochondrial DNA variation in asthenozoospermic Tunisian men.Biochemistry and biophysics reports · 2016Article
- MtDNA analysis reveals enriched pathogenic mutations in Tibetan highlanders.Scientific reports · 2016Article
- Genetic and clinical analysis of nonsyndromic hearing impairment in pediatric and adult cases.Balkan journal of medical genetics : BJMG · 2016Article
- The tRNA(Gly) T10003C mutation in mitochondrial haplogroup M11b in a Chinese family with diabetes decreases the steady-state level of tRNA(Gly), increases aberrant reactive oxygen species production, and reduces mitochondrial membrane potential.Molecular and cellular biochemistry · 2015Article
- Compound mitochondrial DNA mutations in a neurological patient with ataxia, myoclonus and deafness.Journal of genetics · 2014Article
- The role of the mitochondrial ribosome in human disease: searching for mutations in 12S mitochondrial rRNA with high disruptive potential.Human molecular genetics · 2014Article
- The mitochondrion: a perpetrator of acquired hearing loss.Hearing research · 2013Review
- The carrier rate and mutation spectrum of genes associated with hearing loss in South China hearing female population of childbearing age.BMC medical genetics · 2013Article
- Novel nucleotide changes in mutational analysis of mitochondrial 12SrRNA gene in patients with nonsyndromic and aminoglycoside-induced hearing loss.Molecular biology reports · 2013Article
- A "Copernican" reassessment of the human mitochondrial DNA tree from its root.American journal of human genetics · 2012Article
- Complete mitochondrial DNA genome sequence variation of Chinese families with mutation m.3635G>A and Leber hereditary optic neuropathy.Molecular vision · 2012Article
- Systematic analysis of mitochondrial genes associated with hearing loss in the Japanese population: dHPLC reveals a new candidate mutation.BMC medical genetics · 2011Article
- Is mitochondrial tRNA(phe) variant m.593T>C a synergistically pathogenic mutation in Chinese LHON families with m.11778G>A?PloS one · 2011Article
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Authors and funding
4 authors.
Funding
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Abstract
In a number of recent studies, we summarized the obvious errors and shortcomings that can be spotted in many (if not most) mitochondrial DNA (mtDNA) data sets published in medical genetics. We have reanalyzed here the complete mtDNA genome data published in various recent reports of East Asian families with hearing impairment, using a phylogenetic approach, in order to demonstrate the persistence of lab-specific mistakes in mtDNA genome sequencing in cases where those caveats were (deliberately) neglected. A phylogenetic reappraisal of complete mtDNAs with mutation A1555G (or G11778A) indeed supports the suggested lack of association between haplogroup background and phenotypic presentation of these mutations in East Asians. In contrast, the claimed pathogenicity of mutation T1095C in Chinese families with hearing impairment seems unsupported, basically because this mutation is rather basal in the mtDNA phylogeny, being specific to haplogroup M11 in East Asia. The roles of other haplogroup specific or associated variants, such as A827G, T961C, T1005C, in East Asian subjects with aminoglycoside-induced and non-syndromic hearing loss are also unclear in view of the known mtDNA phylogeny.
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