ORHAN TUNÇ, ELİF BAYSAL, SİBEL OĞUZKAN BALCI, LÜTFİ SEMİH MUMBUÇ, SACİDE PEHLİVAN, MUZAFFER KANLIKAMA

Ağır konjenital iflitme kayb>nda glutatyon peroksidaz ve katalaz enzim gen polimorfizmleri

Ağır konjenital işitme kaybında glutatyon peroksidaz ve katalaz enzim gen polimorfizmleri Amaç: Bu çalışmanın amacı konjenital ağır işitme kaybı olan koklearimplantlı hastalarda glutatyon peroksidaz 1 geni (GPX1) üzerindeki kodon 200 polimorfizmini ve katalaz geni (CAT) üzerindeki A/T değişimlerini araştırmak idi.Yöntem:Doğuştan işitme kaybı olan 65 koklear implant hastası ve yaşve cinsiyet eşleşmeli 100 gönüllü 2011 ila 2013 yılları arasında değerlendirilmiştir. Tuzla çökeltme yöntemi kullanılarak periferik kan numunelerinden genomik DNA ekstrakte edilmiştir. Polimeraz zincir reaksiyonu ve restriksiyon fragment uzunluk polimorfizmleri kullanılarakCAT geninin promoter bölgesindeki T/A polimorfizmi (rs7943316) veGPX1 gen kodon 200 prolinin lösine çevrimi (rs1050450) belirlenmiştir. Bulgular:GPX1 üstündeki kodon 2000 içindeki CC ve CT genotipleri arasında istatistiksel açıdan anlamlı herhangi bir istatistiksel açıdan anlamlı farklılık bulunmamıştır (CC, p=0.10; CT, p=0.48). AncakTT genotipi açısından istatistiksel açıdan anlamlı bir farklılık vardı(p=0.04). CAT promoter bölgesi açısından hastalarla kontrol grupları arasında istatistiksel açıdan anlamlı bir farklılık yoktu (AA, p=0.41;TA, p=0.16; TT, p=0.08). Sonuç:Sonuç olarak GPX1 kodon 200 üzerindeki TT genotipi konjenital ağır sensorinöral işitme kaybıyla ilişkili olabilir.

Glutathione peroxidase and catalase enzyme gene polymorphisms in profound congenital hearing loss

Objective:The aim of this study was to search the codon 200 polymorphism on the glutathione peroxidase 1 gene (GPX1) and A/T changeson the promoter region of the catalase gene (CAT) in cochlear implantpatients with congenital profound hearing loss. Methods:Sixty-five cochlear implant patients with congenital hearingloss and 100 age- and gender-matched healthy volunteers were evaluated between 2011 and 2013. Genomic DNA was extracted from peripheral blood samples by using the salting out procedure. The T/A polymorphism in the promoter region of the CAT gene (rs7943316) andGPX1 gene codon 200 proline to leucine substitution (rs1050450) weredetermined by polymerase chain reaction and restriction fragmentlength polymorphisms. Results: No statistically significant difference was found in CC and CTgenotypes in codon 200 on GPX1 (CC, p=0.10; CT, p=0.48) However,there was a statistically significant difference in the TT genotype(p=0.04). In the CAT promoter region, there was no statistically significant difference between the patients and control groups (AA, p=0.41; TA,p=0.16; TT, p=0.08). Conclusion:As a conclusion, the TT genotype on the GPX1 codon200 may have a relationship with congenital profound sensorineuralhearing loss.

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Belgin E, Baflar F, Ertürk B, San _____. Newborn hearing screening in Turkey. International Conference on Newborn Hearing Screening Diagnoss and Intervention, Book of Abstracts. Milan, Italy; 2002. p. 50.
Lalwani AK, Castelein CM. Cracking the auditory genetic code: nonsyndromic hereditary hearing impairment. Am J Otol 1999;20: 115-32.
Cadenas E. Biochemistry of oxygen toxicity. Annu Rev Biochem 1989;58:79-110.
Sies H. Oxidative stress: oxidants and antioxidants. Exp Physiol 1997;82:291-5.
Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
Park HH, Ha E, Uhm YK, et al. Association study between catalase gene polymorphisms and the susceptibility to vitiligo in Korean population. Exp Dermatol 2006:15;377-80.
Em S, Laddha NC, Chatterjee S, et al. Association of catalase T/C exon 9 and glutathione peroxidase codon 200 polymorphisms in relation to their activities and oxidative stress with vitiligo susceptibility in Gujarat population. Pigment Cell Res 2007:20;405-7.
Strom TM, Wienker TF. Hardy-Weinberg equilibrium online analysis program. Accessed through: http:/ihg.gsf.de/cgibin/hw/hwa2.pl.
Jacono AA, Hu B, Kopke RD, Henderson D, Van De Water TR, Steinman HM. Changes in cochlear antioxidant enzyme activity after sound conditioning and noise exposure in the chinchilla. Hear Res 1998:117;31-8.
Goth L, Rass P, Pay A. Catalase enzyme mutations and their associations with diseases. Mol Diagn 2004:8;141-9.
Yamane H, Nakai Y, Takayama M, Iguchi H, Nakagawa T, Kojima A. Appearance of free radicals in the guinea pig inner ear after noise-induced acoustic trauma, Eur Arch Otorhinolaryngol 1995:252;504-8.
Labbe D, Teranishi MA, Hess A, Bloch W, Michel O. Activation of caspase-3 is associated with oxidative stress in the hydropic guinea pig cochlea. Hear Res 2005:202;21-7.
Calabrese V, Cornelius C, Maiolino L, et al. Oxidative stress, redox homeostasis and cellular stress response in Meniere's disease: role of vitagenes. Neurochem Res 2010:35;2208-17.
Hong Z, Tian C, Zhang X. GPX1 gene Pro200Leu polymorphism, erythrocyte GPX activity, and cancer risk. Mol Biol Rep 2013:40;1801-12.
Paz-y-Mino C, Carrera C, Lopez-Cortes A, et al. Genetic polymorphisms in apolipoprotein E and glutathione peroxidase 1 genes in the Ecuadorian population affected with Alzheimer's disease. Am J Med Sci 2010:340;373-7.
Teranishi M, Uchida Y, Nishio N, et al. Polymorphisms in genes involved in oxidative stress response in patients with sudden sensorineural hearing loss and Meniere's disease in a Japanese population. DNA Cell Biol 2012:31;1555-62.
Konings A, Van Laer L, Pawelczyk M, et al., Association between variations in CAT and noise-induced hearing loss in two independent noise-exposed populations. Hum Mol Genet 2007:16;1872-83.