E-ISSN 2602-4837
The Turkish Journal of Ear Nose and Throat Screening of the mitochondrial 12S rRNA (MTRNR1) gene in probands with sensorineural hearing loss [Tr-ENT]
Tr-ENT. 2007; 17(2): 75-80

Screening of the mitochondrial 12S rRNA (MTRNR1) gene in probands with sensorineural hearing loss

Yaprak E. Çırçır1, Armağan İncesulu, Mustafa Tekin

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 PCRRFLP
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.

Keywords: Aminoglycosides; hearing loss, sensorineural/etiology; RNA/genetics.

Sensörinöral işitme kaybı olan kişilerde mitokondriyal 12S rRNA (MTRNR1) geninin taranması

Yaprak E. Çırçır1, Armağan İncesulu, Mustafa Tekin

Anahtar Kelimeler: Aminoglikozit; sensorinöral işitme kaybı/etyoloji; RNA/genetik.

Yaprak E. Çırçır, Armağan İncesulu, Mustafa Tekin. Screening of the mitochondrial 12S rRNA (MTRNR1) gene in probands with sensorineural hearing loss. Tr-ENT. 2007; 17(2): 75-80

Corresponding Author: Yaprak E. Çırçır
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