Inherited mitochondrial variants are not a major cause of age-related hearing impairment in the European population.

Autor: Bonneux S; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium., Fransen E, Van Eyken E, Van Laer L, Huyghe J, Van de Heyning P, Voets A, Gerards M, Stassen AP, Hendrickx AT, Smeets HJ, Van Camp G
Jazyk: angličtina
Zdroj: Mitochondrion [Mitochondrion] 2011 Sep; Vol. 11 (5), pp. 729-34. Date of Electronic Publication: 2011 May 30.
DOI: 10.1016/j.mito.2011.05.008
Abstrakt: Mitochondrial DNA (mtDNA) mutations have been implicated in various age-related diseases. To further clarify the role of mtDNA variants in age-related hearing impairment (ARHI), we determined the DNA sequence of the entire mitochondrial genome of 400 individuals using the Affymetrix Human Mitochondrial Resequencing Array. These were the 200 worst hearing and the 200 best hearing from a collection of 947 Belgian samples. We performed association tests with individual mitochondrial variants, comparison of the mutation load, and association with European haplogroups and their interaction with environmental risk factors. We also tested the influence of rare variants on ARHI. None of these tests showed any association with ARHI.
(Copyright © 2011. Published by Elsevier B.V.)
Databáze: MEDLINE
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