Screening of three common mtDNA mutations among subjects with autosomal recessive non-syndromic hearing loss in Sistan va Baluchestan province, Iran

AUTHORS

Fartemeh Azadegan-Dehkordi 1 , Mostafa Montazer-Zohouri 2 , Effat Farrokhi 3 , S.Abolfateh Shirmardi 4 , Mojtaba Saedi-Marghmaleki 5 , Zohreh Ataei 6 , Somayeh Reisi 7 , Marzieh Abolhasani 1 , Hamid Khazraei 8 , Mohammad T. Akbari 9 , Morteza Hashemzadeh 10 , *

AUTHORS INFORMATION

1 BSc of Genetics, Cellular and Molecular Research Center, Shahrekord University of Medical Sciences and Health Services, Shahrekord, Iran.

2 PhD Student of Medical Genetics, Tarbiat Modares University, Tehran, Iran.

3 MSc of Biochemistery, Cellular and Molecular Reserch Center, Shahrekord University of Medical Sciences and Health Services, Shahrekord, Iran.

4 General Physician, Welfare Organization of Chaharmahal va Bakhtiari province, Shahrekord, Iran

5 BSc of Laboratory Sciences, Cellular and Molecular Reserch Center, Shahrekord University of Medical Sciences and Health Services, Shahrekord, Iran.

6 MSc of Human Genetics, Tehran University of Medical Sciences, Tehran, Iran.

7 MSc of Cellular and Molecular Biology, Isfahan University, Isfahan, Iran.

8 Assistant Professor of ENT, Shahrekord University of Medical Sciences and Health Services, Shahrekord, Iran.

9 Assistant Professor of Medical Genetics, Tarbiat Modares University, Tehran, Iran.

10 Professor of Human Genetics, Cellular and Molecular Reserch Center, Shahrekord University of Medical Sciences and Health Services, Shahrekord, Iran.

ARTICLE INFORMATION

Zahedan Journal of Research in Medical Sciences: 13 (5); e93909
Published Online: May 13, 2011
Article Type: Research Article
Received: April 27, 2010
Accepted: June 01, 2010

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Abstract

Background: Non-syndromic hearing loss may be induced by mutations in both nuclear and mitochondrial genes. Mutations in mtDNA are present in less than 1% of the children with pre-lingual deafness but are more prevalent later. Most of the molecular defects responsible for mitochondrial disorder, associated with hearing loss may be induced by mutations in the 12SrRNA and tRNA genes. This aim of this study was to investigate the frequency of three common mtDNA mutations including A1555G, A3243G and A7445G in a cohort of autosomal recessive non-syndromic hearing loss (ARNSHL) subjects in Sistan va Baluchestan province.

Material and Methods: In this descriptive- experimental based study, a total of 110. ARNSHL subjects from Sistan va Baluchestan province were investigated for three common mtDNA mutations using PCR-RFLP procedure. The possible mutations were confirmed by direct sequencing.

Results: None of the A1555G and A7445G mutations were detected in this study. However, we found one sample to carry A3243G mutation (0.9%). Moreover abolishing a MTTL1 restriction site close to A3243G mutation revealed a G3316A allelic variant in 0.9% of patients studied.

Conclusion: This study showed that mtDNA mutations are responsible for less than 1% of pre-lingual ARNSHL associated subjects. The present study will improve the genetic counseling of hearing impaired patients in Sistan va Baluchestan province, Iran.

Keywords

ARNSHL mtDNA mutations A1555G A3243G A7445G

© 2011, Zahedan Journal of Research in Medical Sciences. This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/) which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited.
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