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Association of nuclear and mitochondrial genes with audiological examinations in Iranian patients with nonaminoglycoside antibiotics-induced hearing loss

Authors Balali M, Kamalidehghan B, Farhadi M, Ahmadipour F, Dehghani Ashkzari M, Rezaei Hemami M, Arabzadeh H, Falah M, Yong Meng G, Houshmand M

Received 16 June 2015

Accepted for publication 29 September 2015

Published 28 January 2016 Volume 2016:12 Pages 117—128


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 2

Editor who approved publication: Professor Garry Walsh

Maryam Balali,1,2 Behnam Kamalidehghan,3 Mohammad Farhadi,2 Fatemeh Ahmadipour,4 Mahmoud Dehghani Ashkezari,1 Mohsen Rezaei Hemami,2 Hossein Arabzadeh,2 Masoumeh Falah,2 Goh Yong Meng,5 Massoud Houshmand3

1Department of Biology, Islamic Azad University, Ashkezar Branch, Ashkezar, 2Department and Research Centre of ENT and Head & Neck Surgery, Iran University of Medical Sciences, Tehran, Iran; 3Medical Genetics Department, National Institute of Genetic Engineering and Biotechnology, Tehran, Iran; 4Department of Pharmacy, Faculty of Medicine, University of Malaya, Kuala Lumpur, 5Department of Veterinary Preclinical Sciences, Faculty of Veterinary Medicine, Universiti Putra Malaysia, Serdang, Malaysia

Abstract: Mitochondrial DNA mutations play an important role in causing sensorineural hearing loss. The purpose of this study was to determine the association of the mitochondrial genes RNR1, MT-TL1, and ND1 as well as the nuclear genes GJB2 and GJB6 with audiological examinations in nonfamilial Iranians with cochlear implants, using polymerase chain reaction, DNA sequencing, and RNA secondary structure analysis. We found that there were no novel mutations in the mitochondrial gene 12S rRNA (MT-RNR1) in patients with and without GJB2 mutation (GJB2+ and GJB2-, respectively), but a total of six polymorphisms were found. No mutations were observed in tRNALeu(UUR) (MT-TL1). Furthermore, eight polymorphisms were found in the mitochondrial ND1 gene. Additionally, no mutations were observed in the nuclear GJB6 gene in patients in the GJB2- and GJB2+ groups. The speech intelligibility rating and category of auditory perception tests were statistically assessed in patients in the GJB2- and GJB2+ groups. The results indicated that there was a significant difference (P<0.05) between the categories of auditory perception score in the GJB2- group compared to that in the GJB2+ group. Successful cochlear implantation was observed among individuals with GJB2 mutations (GJB2+) and mitochondrial polymorphisms compared to those without GJB2 mutations (GJB2-). In conclusion, the outcome of this study suggests that variation in the mitochondrial and nuclear genes may influence the penetrance of deafness. Therefore, further genetic and functional studies are required to help patients in making the best choice for cochlear implants.

Keywords: mitochondrial 12S rRNA (MT-RNR1) gene, mitochondrial tRNALeu(UUR) (MT-TL1) gene, MT-ND1, nuclear GJB2 and GJB6 genes, cochlear implant, sensorineural hearing loss

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