Association between the mitochondrial DNA 4977 common deletion in the hair shaft and hearing loss in presbycusis

Liu,Hong; Han,Yuechen; Wang,Shuai; Wang,Haibo

doi:10.3892/mmr.2014.2877

Association between the mitochondrial DNA 4977 common deletion in the hair shaft and hearing loss in presbycusis

Authors:
- Hong Liu
- Yuechen Han
- Shuai Wang
- Haibo Wang
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Affiliations: Department of Otorhinolaryngology Head and Neck Surgery, Provincial Hospital Affiliated to Shandong University, Jinan, Shandong 250000, P.R. China, Department of Thoracic Surgery, Provincial Hospital Affiliated to Shandong University, Jinan, Shandong 250000, P.R. China
Published online on: November 6, 2014 https://doi.org/10.3892/mmr.2014.2877
Pages: 1127-1131

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Abstract

The aim of the present study was to examine the role of the mitochondrial (mt) DNA common deletion (CD) 4977 (mtDNACD4977) in the hair shaft in patients with presbycusis. A total of 87 individuals with presbycusis and 95 normal‑hearing controls were selected based on strict audiometric criteria. Nested polymerase chain reaction (PCR), sequencing and quantitative (q)PCR were used to examine the expression levels of mtDNACD4977 in the hair shaft in presbycusis. Nested PCR of the hair shaft demonstrated that 8/95 cases with normal hearing were found to be positive for mtDNACD4977, as compared with 59/87 cases in the presbycusis group. The mtDNACD4977 was positive in 22/43 cases with mild‑to‑moderate hearing loss, 25/31 cases with moderate‑to‑severe, severe hearing loss, and 12/13 cases with profound deafness. Statistically significant differences in mtDNACD4977 expression were identified among all of the groups (P<0.001). The sequencing and qPCR assays demonstrated a trend towards an increase in the mean CD level of mtDNACD4977 with a more severe hearing loss at 8 kHz (r=0.778, P<0.001) and all ranges of frequency (r=0.858, P<0.001). In conclusion, the present study demonstrates a correlation between mtDNACD4977 in the human hair shaft and the severity of hearing loss in presbycusis.

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1	Mao Z, Zhao L, Pu L, et al: How well can centenarians hear? PLoS One. 8:e655652013. View Article : Google Scholar : PubMed/NCBI
2	Sprinzl GM and Riechelmann H: Current trends in treating hearing loss in elderly people: a review of the technology and treatment options-a mini-review. Gerontology. 56:351–358. 2010. View Article : Google Scholar
3	Markaryan A, Nelson EG and Hinojosa R: Quantification of the mitochondrial DNA common deletion in presbycusis. Laryngoscope. 119:1184–1189. 2009. View Article : Google Scholar : PubMed/NCBI
4	Gendron SP, Mallet JD, Bastien N and Rochette PJ: Mitochondrial DNA common deletion in the human eye: a relation with corneal aging. Mech Ageing Dev. 133:68–74. 2012. View Article : Google Scholar : PubMed/NCBI
5	Nie H, Shu H, Vartak R, et al: Mitochondrial common deletion, a potential biomarker for cancer occurrence, is selected against in cancer background: a meta-analysis of 38 studies. PLoS One. 8:e679532013. View Article : Google Scholar : PubMed/NCBI
6	Torrell H, Montaña E, Abasolo N, et al: Mitochondrial DNA (mtDNA) in brain samples from patients with major psychiatric disorders: gene expression profiles, mtDNA content and presence of the mtDNA common deletion. Am J Med Genet B Neuropsychiatr Genet. 162B:213–223. 2013. View Article : Google Scholar : PubMed/NCBI
7	Zheng Y, Luo X, Zhu J, et al: Mitochondrial DNA 4977 bp deletion is a common phenomenon in hair and increases with age. Bosn J Basic Med Sci. 12:187–192. 2012.PubMed/NCBI
8	Pesce V, Cormio A, Marangi LC, et al: Depletion of mitochondrial DNA in the skeletal muscle of two cirrhotic patients with severe asthenia. Gene. 286:143–148. 2002. View Article : Google Scholar : PubMed/NCBI
9	Obara-Moszynska M, Maceluch J, Bobkowski W, et al: A novel mitochondrial DNA deletion in a patient with Kearns-Sayre syndrome: a late-onset of the fatal cardiac conduction deficit and cardiomyopathy accompanying long-term rGH treatment. BMC Pediatr. 13:272013. View Article : Google Scholar : PubMed/NCBI
10	Taylor RW, Schaefer AM, McFarland R, Maddison P and Turnbull DM: A novel mitochondrial DNA tRNA(Ile) (A4267G) mutation in a sporadic patient with mitochondrial myopathy. Neuromuscul Disord. 12:659–664. 2002. View Article : Google Scholar : PubMed/NCBI
11	Love RL and Bird P: Cochlear implantation in mitochondrial deafness due to A7445G mutation. Cochlear Implants Int. 14:28–31. 2013. View Article : Google Scholar
12	Hao H, Bonilla E, Manfredi G, DiMauro S and Moraes CT: Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitus. Am J Hum Genet. 56:1017–1025. 1995.PubMed/NCBI
13	Fischel-Ghodsian N, Bykhovskaya Y, Taylor K, et al: Temporal bone analysis of patients with presbycusis reveals high frequency of mitochondrial mutations. Hear Res. 110:147–154. 1997. View Article : Google Scholar : PubMed/NCBI
14	Bai U and Seidman MD: A specific mitochondrial DNA deletion (mtDNA4977) is identified in a pedigree of a family with hearing loss. Hear Res. 154:73–80. 2001. View Article : Google Scholar : PubMed/NCBI
15	Dai P, Yang W, Jiang S, et al: Correlation of cochlear blood supply with mitochondrial DNA common deletion in presbyacusis. Acta Otolaryngol. 124:130–136. 2004. View Article : Google Scholar : PubMed/NCBI
16	Yamasoba T, Someya S, Yamada C, et al: Role of mitochondrial dysfunction and mitochondrial DNA mutations in age-related hearing loss. Hear Res. 226:185–193. 2007. View Article : Google Scholar
17	Bekaert B, Larmuseau MH, Vanhove MP, Opdekamp A and Decorte R: Automated DNA extraction of single dog hairs without roots for mitochondrial DNA analysis. Forensic Sci Int Genet. 6:277–281. 2012. View Article : Google Scholar
18	Harman D: Free radical theory of aging. Mutat Res. 275:257–266. 1992. View Article : Google Scholar : PubMed/NCBI
19	Mecocci P, MacGarvey U, Kaufman AE, et al: Oxidative damage to mitochondrial DNA shows marked age-dependent increases in human brain. Ann Neurol. 34:609–616. 1993. View Article : Google Scholar : PubMed/NCBI
20	Lagouge M and Larsson NG: The role of mitochondrial DNA mutations and free radicals in disease and ageing. J Intern Med. 273:529–543. 2013. View Article : Google Scholar : PubMed/NCBI
21	Chen B, Zhong Y, Peng W, Sun Y and Kong WJ: Age-related changes in the central auditory system: comparison of D-galactose-induced aging rats and naturally aging rats. Brain Res. 1344:43–53. 2010. View Article : Google Scholar : PubMed/NCBI
22	Zhong Y, Hu YJ, Yang Y, et al: Contribution of common deletion to total deletion burden in mitochondrial DNA from inner ear of d-galactose-induced aging rats. Mutat Res. 712:11–19. 2011. View Article : Google Scholar : PubMed/NCBI
23	Kim EJ, Kim SY, Yun HJ, et al: Detection and quantification of a radiation-associated mitochondrial DNA deletion by a nested real-time PCR in human peripheral lymphocytes. Mutat Res. 749:53–59. 2012. View Article : Google Scholar : PubMed/NCBI
24	Sequeira A, Martin MV, Rollins B, et al: Mitochondrial mutations and polymorphisms in psychiatric disorders. Front Genet. 3:1032012. View Article : Google Scholar : PubMed/NCBI
25	Niu R, Yoshida M and Ling F: Increases in mitochondrial DNA content and 4977-bp deletion upon ATM/Chk2 checkpoint activation in HeLa cells. PLoS One. 7:e405722012. View Article : Google Scholar : PubMed/NCBI
26	Yuan YY, Dai P, Zhu XH, et al: Etiologic analysis of severe to profound hearing loss patients from Chifeng city in Inner Mongolia. Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 44:292–296. 2009.(In Chinese). PubMed/NCBI