Screening of the mitochondrial 12S rRNA (MTRNR1) gene in probands with sensorineural hearing loss Sensörinöral işitme kaybi olan kişilerde mitokondriyal 12S rRNA (MTRNR1) geninin taranmasi.

Cirçir Y. E., Incesulu A., Tekin M.

Kulak burun boǧaz ihtisas dergisi : KBB = Journal of ear, nose, and throat, vol.17, no.2, pp.75-80, 2007 (Scopus) identifier identifier

Abstract

OBJECTIVES: We investigated mitochondrial DNA 12S rRNA (MTRNR1) gene mutations as a cause of hearing loss in probands with or without a history of aminoglycoside use. PATIENTS AND METHODS: The study included 70 patients (40 females, 30 males; age range 3 to 42 years) with nonsyndromic sensorineural hearing loss. Eleven probands had a history of aminoglycoside use before the onset of hearing loss. All cases were first screened and found to be negative for the GJB2 (connexin 26) gene mutations. The m.1555A>G mutation was screened using the PCR-RFLP technique. The entire 12S rRNA gene was later screened with the PCR-TTGE technique followed by direct sequencing. RESULTS: Of 11 patients with a history of aminoglycoside use, one patient was found to have the m.1555A>G mutation. Two probands with no history of aminoglycoside use exhibited the m.750A>G polymorphism. No pathogenic base substitutions were detected in the remaining patients. CONCLUSION: Apart from the common aminoglycoside ototoxicity-related DNA change, m.1555A>G, we could not identify a common mitochondrial 12S rRNA mutation associated with hearing loss in Turkey. Screening of larger series may document rare alterations.