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<i>GJB2</i>Gene Related Nonsyndromic Hearing Loss in Mazandaran Province, North of Iran

Open Journal of Genetics 2020年第3期10卷 51-63页

作者： elaheh hosseini Seyed Saeid Mousavi Atefeh Khoshaein Fatemeh Daneshpour Moosa Rajabi Vandchali S. Mohammad Bagher Hashemi-Soteh Novin Genetic Diagnostic Laboratory Sari Iran Mehregan Genetic Counseling Center Sari Iran Novin Genetic Counseling Center Sari Iran Genetic Counseling Center State Welfare Organization of Mazandaran Province Sari Iran Immunogenetic Research Center Molecular and Cell Biology Research Center Faculty of Medicine Mazandaran University of Medical Sciences Sari Iran

Introduction: Congenital hearing loss is the most common sensory deficit in the world and mutations in GJB2 gene are the most common cause of deafness in many populations. Frequency of GJB2 mutations is estimated about 16% in Iran and varies among different provinces with a decreasing trend from north to south. The aim of this study was to investigate the frequency of GJB2 mutations in Mazandaran province, north of Iran, among non-syndromic hearing loss patients. Methods: 262 patients from 204 families participated in this study. After genomic DNA extraction, GJB2 gene analysis was carried out using DNA sequencing of both coding and non-coding regions by ABI 3130XL genetic analyzer. Results: 30.15% of all subjects showed mutations in GJB2 gene. Four mutations, including c.35delG (Gly12Valfs*), IVSI-1 + 1G > A, c.95G > A (Arg32His) and c.224 G > A (Arg75Gln) comprises 69.89% of all mutations in this study c.35delG and IVSI-1 were the most common mutations among patients respectively. Codon 75 mutation (c.224G > A. p: Arg75Gln) with autosomal dominant inheritance was seen in 7 cases from 3 families. 22 patients showed only one mutation in GJB2 gene and in 126 (48.09%) individuals, parents had a consanguineous marriage. Discussion: Frequency of GJB2 gene related hearing loss among patients was higher than average (16%) in this province. This study also showed a dominant inheritance pattern of GJB2 gene in this area. Consanguineous marriage also showed highly frequent among parents. More investigation needs to clarify cause of hearing loss in those 22 patients with one mutation in GJB2 gene, either two gene inheritance or another gene may be responsible for hearing loss.

关键词： Hearing Loss GJB2 Mazandaran Hereditary Deafness Nonsyndromic

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Ginger extract attenuates ethanol-induced pulmonary histological changes and oxidative stress in rats

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The Journal of Biomedical Research 2017年第6期31卷 521-527页

作者： Alireza Shirpoor Farzaneh hosseini Gharalari Yousef Rasmi elaheh Heshmati Department of Physiology Faculty of Medicine Nephrology and Kidney Transplant Research Center Departments of Biochemistry Department of Nutrition Faculty of MedicineUrmia University of Medical SciencesUrmiaIran

Chronic ethanol consumption is associated with changes in the function and structure of the lungs. The aim of this study was to investigate the effect of chronic ethanol exposure on the lungs and whether ginger extract mitigated pulmonary abnormalities induced by ethanol in rats. Male Wistar rats were divided into the control group, the ethanol group, and the ethanol plus ginger extract group. Six weeks of ethanol treatment increased the proliferation of lung cells, and induced fibrosis, inflammation and leukocyte infiltration. A significant rise in the level of 8-hydroxydeoxyguanosine, NADPH oxidase, and oxidized low-density lipoprotein was also observed. Ginger extract significantly ameliorated the above changes. These findings indicate that ethanol induces abnormalities in the lungs by oxidative DNA damage and oxidative stress, and that these effects can be alleviated by ginger, which may function as an antioxidant and anti-inflammatory agent.

关键词： ethanol lung oxidative stress DNA damage rat fibrosis ginger

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