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. 2014 Aug 27:20:1203-8.
eCollection 2014.

Keratoconus is associated with increased copy number of mitochondrial DNA

Khaled K Abu-Amero  1 , Altaf A Kondkar  2 , Taif Anwar Azad  2 , Tahira Sultan  2 , Hatem Kalantan  3 , Abdulrahman M Al-Muammar  3
Affiliations

Keratoconus is associated with increased copy number of mitochondrial DNA

Khaled K Abu-Amero et al. Mol Vis. .

Abstract

Purpose: To investigate the possible association of oxidative stress with keratoconus (KC), we estimated the changes in relative mitochondrial DNA (mtDNA) content.

Methods: The study included 119 patients with KC and 208 controls matched for gender, ethnicity, and systemic disease status. We selected controls who were older than the patients since the mtDNA copy number tends to increase with age. The age mean (standard deviation) was 26.4(7.6) and 54.5(14.4) years for the patients and controls, respectively. The relative mtDNA copy number was estimated with the real-time quantitative PCR (qPCR) method using ND1 as the mtDNA gene and human globulin (HGB; also known as the cytoglobin gene, CYGB) as the reference single-copy nuclear gene.

Results: The mean relative mtDNA content was significantly higher in patients with KC (1.20±0.45) than in the normal control subjects (1.04±0.36; p = 0.0004). Subjects with high mtDNA content (>1.259, i.e., greater than 75(th) percentile) were at an increased risk of the disease (odds ratio = 2.62, 95% confidence interval = 1.40 to 4.89; p =0.0025).

Conclusions: Increased mtDNA content in patients with KC may indicate mitochondrial respiratory chain defects and thus mitochondrial-abnormality involvement.

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Figures

Figure 1
Figure 1
Box plot showing distribution of the mtDNA copy number in the cases and control groups.
See this image and copyright information in PMC

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