Association of genetic variations in the mitochondrial DNA control region with presbycusis

Masoumeh Falah,1 Mohammad Farhadi,1 Seyed Kamran Kamrava,1 Saeid Mahmoudian,1 Ahmad Daneshi,1 Maryam Balali,1 Alimohamad Asghari,2 Massoud Houshmand1,3 1ENT and Head & Neck Research Center and Department, Iran University of Medical Sciences, Tehran, Iran; 2Skull Base Research Center, Iran U...

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Autores principales:	Falah M, Farhadi M, Kamrava SK, Mahmoudian S, Daneshi A, Balali M, Asghari A, Houshmand M
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2017
Materias:	Geriatrics RC952-954.6
Acceso en línea:	https://doaj.org/article/7ebe13c133f64e22b2327a5caae86d71
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spelling	oai:doaj.org-article:7ebe13c133f64e22b2327a5caae86d712021-12-02T03:38:40ZAssociation of genetic variations in the mitochondrial DNA control region with presbycusis1178-1998https://doaj.org/article/7ebe13c133f64e22b2327a5caae86d712017-03-01T00:00:00Zhttps://www.dovepress.com/association-of-genetic-variations-in-the-mitochondrial-dna-control-reg-peer-reviewed-article-CIAhttps://doaj.org/toc/1178-1998Masoumeh Falah,1 Mohammad Farhadi,1 Seyed Kamran Kamrava,1 Saeid Mahmoudian,1 Ahmad Daneshi,1 Maryam Balali,1 Alimohamad Asghari,2 Massoud Houshmand1,3 1ENT and Head & Neck Research Center and Department, Iran University of Medical Sciences, Tehran, Iran; 2Skull Base Research Center, Iran University of Medical Sciences, Tehran, Iran; 3Department of Medical Genetics, National Institute of Genetic Engineering and Biotechnology, Tehran, Iran Background: The prominent role of mitochondria in the generation of reactive oxygen species, cell death, and energy production contributes to the importance of this organelle in the intracellular mechanism underlying the progression of the common sensory disorder of the elderly, presbycusis. Reduced mitochondrial DNA (mtDNA) gene expression and coding region variation have frequently been reported as being associated with the development of presbycusis. The mtDNA control region regulates gene expression and replication of the genome of this organelle. To comprehensively understand of the role of mitochondria in the progression of presbycusis, we compared variations in the mtDNA control region between subjects with presbycusis and controls.Methods: A total of 58 presbycusis patients and 220 control subjects were enrolled in the study after examination by the otolaryngologist and audiology tests. Variations in the mtDNA control region were investigated by polymerase chain reaction and Sanger sequencing.Results: A total of 113 sequence variants were observed in mtDNA, and variants were detected in 100% of patients, with 84% located in hypervariable regions. The frequencies of the variants, 16,223 C>T, 16,311 T>C, 16,249 T>C, and 15,954 A>C, were significantly different between presbycusis and control subjects.Conclusion: The statistically significant difference in the frequencies of four nucleotide variants in the mtDNA control region of presbycusis patients and controls is in agreement with previous experimental evidence and supports the role of mitochondria in the intracellular mechanism underlying presbycusis development. Moreover, these variants have potential as diagnostic markers for individuals at a high risk of developing presbycusis. The data also suggest the possible presence of changes in the mtDNA control region in presbycusis, which could alter regulatory factor binding sites and influence mtDNA gene expression and copy number. Keywords: age-related hearing impairment, presbycusis, mtDNA control region, audiologyFalah MFarhadi MKamrava SKMahmoudian SDaneshi ABalali MAsghari AHoushmand MDove Medical PressarticleGeriatricsRC952-954.6ENClinical Interventions in Aging, Vol Volume 12, Pp 459-465 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Geriatrics RC952-954.6
spellingShingle	Geriatrics RC952-954.6 Falah M Farhadi M Kamrava SK Mahmoudian S Daneshi A Balali M Asghari A Houshmand M Association of genetic variations in the mitochondrial DNA control region with presbycusis
description	Masoumeh Falah,1 Mohammad Farhadi,1 Seyed Kamran Kamrava,1 Saeid Mahmoudian,1 Ahmad Daneshi,1 Maryam Balali,1 Alimohamad Asghari,2 Massoud Houshmand1,3 1ENT and Head & Neck Research Center and Department, Iran University of Medical Sciences, Tehran, Iran; 2Skull Base Research Center, Iran University of Medical Sciences, Tehran, Iran; 3Department of Medical Genetics, National Institute of Genetic Engineering and Biotechnology, Tehran, Iran Background: The prominent role of mitochondria in the generation of reactive oxygen species, cell death, and energy production contributes to the importance of this organelle in the intracellular mechanism underlying the progression of the common sensory disorder of the elderly, presbycusis. Reduced mitochondrial DNA (mtDNA) gene expression and coding region variation have frequently been reported as being associated with the development of presbycusis. The mtDNA control region regulates gene expression and replication of the genome of this organelle. To comprehensively understand of the role of mitochondria in the progression of presbycusis, we compared variations in the mtDNA control region between subjects with presbycusis and controls.Methods: A total of 58 presbycusis patients and 220 control subjects were enrolled in the study after examination by the otolaryngologist and audiology tests. Variations in the mtDNA control region were investigated by polymerase chain reaction and Sanger sequencing.Results: A total of 113 sequence variants were observed in mtDNA, and variants were detected in 100% of patients, with 84% located in hypervariable regions. The frequencies of the variants, 16,223 C>T, 16,311 T>C, 16,249 T>C, and 15,954 A>C, were significantly different between presbycusis and control subjects.Conclusion: The statistically significant difference in the frequencies of four nucleotide variants in the mtDNA control region of presbycusis patients and controls is in agreement with previous experimental evidence and supports the role of mitochondria in the intracellular mechanism underlying presbycusis development. Moreover, these variants have potential as diagnostic markers for individuals at a high risk of developing presbycusis. The data also suggest the possible presence of changes in the mtDNA control region in presbycusis, which could alter regulatory factor binding sites and influence mtDNA gene expression and copy number. Keywords: age-related hearing impairment, presbycusis, mtDNA control region, audiology
format	article
author	Falah M Farhadi M Kamrava SK Mahmoudian S Daneshi A Balali M Asghari A Houshmand M
author_facet	Falah M Farhadi M Kamrava SK Mahmoudian S Daneshi A Balali M Asghari A Houshmand M
author_sort	Falah M
title	Association of genetic variations in the mitochondrial DNA control region with presbycusis
title_short	Association of genetic variations in the mitochondrial DNA control region with presbycusis
title_full	Association of genetic variations in the mitochondrial DNA control region with presbycusis
title_fullStr	Association of genetic variations in the mitochondrial DNA control region with presbycusis
title_full_unstemmed	Association of genetic variations in the mitochondrial DNA control region with presbycusis
title_sort	association of genetic variations in the mitochondrial dna control region with presbycusis
publisher	Dove Medical Press
publishDate	2017
url	https://doaj.org/article/7ebe13c133f64e22b2327a5caae86d71
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Association of genetic variations in the mitochondrial DNA control region with presbycusis

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