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KMID : 1101320120440030128
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Korean Journal of Clinical Laboratory Science
2012 Volume.44 No. 3 p.128 ~ p.135
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Association of ND4L gene 10609 mutation and hearing loss in a Korean with ESRD patients
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Kim Eun-Sook
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Abstract
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The kidney and cochlea have similar physiological characteristics, specifically the active transport of fluid and electrolytes, similar effects of aminoglycosides and some immunological factors. Several mitochondrial DNA (mtDNA) defects have been identified to be associated with hearing impairment either in syndromic or nonsyndromic forms. Dialysis patients had more oxidative stress than healthy subjects and this elevated oxidative stress leads to alterations of the mtDNA. To generate a more comprehensive analysis of the relationship between mitochondrial variation and hearing loss, two SNPs of 10609, 14668 position showed nominal levels of association with hearing loss. In our result, the mean PTA values in the ESRD patients were 28±13.9 (mean±SD) dB and 51.0±23.2 dB in low and high frequencies, which were significantly higher than those in the normal controls. 10609T>C and 14668C>T were significantly associated with hearing loss in the ESRD patients. In summary, our results suggest that the polymorphisms of the ND4L subunit gene might be association with ESRD patients and hearing loss.
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KEYWORD
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ESRD, hearing loss, mitochondrial DNA, ND4L 10609 gene
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