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A reappraisal of complete mtDNA variation in East Asian families with hearing impairment

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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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  1. Yong-Gang Yao

    Present address: Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bldg 10 Rm 3-5216, 9000 Rockville Pike, Bethesda, MD, 20892-1202, USA

Authors and Affiliations

  1. Key Laboratory of Cellular and Molecular Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan, China

    Yong-Gang Yao

  2. Unidad de Genética, Instituto de Medicina Legal, Facultad de Medicina, Universidad de Santiago de Compostela, 15782, and Centro Nacional de Genotipado (CeGen), Hospital Clínico Universitario, 15706, Galicia, Spain

    Antonio Salas

  3. Laboratorio de Genética Molecular Poblacional, Instituto Multidisciplinario de Biología Celular (IMBICE), La Plata, Argentina

    Claudio M. Bravi

  4. Department of Mathematics, University of Hamburg, 20146, Hamburg, Germany

    Hans-Jürgen Bandelt

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Yao, YG., Salas, A., Bravi, C.M. et al. A reappraisal of complete mtDNA variation in East Asian families with hearing impairment. Hum Genet 119, 505–515 (2006). https://doi.org/10.1007/s00439-006-0154-9

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