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Keratoconus is associated with increased copy number of mitochondrial DNA

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 selecte...

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Autores principales: Abu-Amero, Khaled. K., Kondkar, Altaf A., Azad, Taif Anwar, Sultan, Tahira, Kalantan, Hatem, Al-Muammar, Abdulrahman M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4153421/
https://www.ncbi.nlm.nih.gov/pubmed/25221426
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author Abu-Amero, Khaled. K.
Kondkar, Altaf A.
Azad, Taif Anwar
Sultan, Tahira
Kalantan, Hatem
Al-Muammar, Abdulrahman M.
author_facet Abu-Amero, Khaled. K.
Kondkar, Altaf A.
Azad, Taif Anwar
Sultan, Tahira
Kalantan, Hatem
Al-Muammar, Abdulrahman M.
author_sort Abu-Amero, Khaled. K.
collection PubMed
description 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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spelling pubmed-41534212014-09-12 Keratoconus is associated with increased copy number of mitochondrial DNA Abu-Amero, Khaled. K. Kondkar, Altaf A. Azad, Taif Anwar Sultan, Tahira Kalantan, Hatem Al-Muammar, Abdulrahman M. Mol Vis Research Article 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. Molecular Vision 2014-08-27 /pmc/articles/PMC4153421/ /pubmed/25221426 Text en Copyright © 2014 Molecular Vision. http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited, used for non-commercial purposes, and is not altered or transformed.
spellingShingle Research Article
Abu-Amero, Khaled. K.
Kondkar, Altaf A.
Azad, Taif Anwar
Sultan, Tahira
Kalantan, Hatem
Al-Muammar, Abdulrahman M.
Keratoconus is associated with increased copy number of mitochondrial DNA
title Keratoconus is associated with increased copy number of mitochondrial DNA
title_full Keratoconus is associated with increased copy number of mitochondrial DNA
title_fullStr Keratoconus is associated with increased copy number of mitochondrial DNA
title_full_unstemmed Keratoconus is associated with increased copy number of mitochondrial DNA
title_short Keratoconus is associated with increased copy number of mitochondrial DNA
title_sort keratoconus is associated with increased copy number of mitochondrial dna
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4153421/
https://www.ncbi.nlm.nih.gov/pubmed/25221426
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