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

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.

• Authors: Yaprak E Cirçir, Armağan Incesulu, Mustafa Tekin
• Journal: Kulak burun bogaz ihtisas dergisi : KBB = Journal of ear, nose, and throat (Kulak Burun Bogaz Ihtis Derg) Vol. 17 Issue 2 Pg. 75-80 ( 2007) ISSN: 1300-7475 [Print] Turkey
• Vernacular Title: Sensörinöral işitme kaybi olan kişilerde mitokondriyal 12S rRNA (MTRNR1) geninin taranmasi.
• PMID: 17527057 (Publication Type: Journal Article)

Chemical References

• Connexins
• GJB2 protein, human
• RNA, Ribosomal
• RNA, ribosomal, 12S
• Connexin 26

Topics

• Adolescent
• Adult
• Child
• Child, Preschool
• Connexin 26
• Connexins
• Female
• Genes, Mitochondrial (genetics)
• Genetic Predisposition to Disease
• Hearing Loss, Sensorineural (genetics)
• Humans
• Male
• Mutation
• Polymerase Chain Reaction
• Polymorphism, Restriction Fragment Length
• RNA, Ribosomal (analysis)
• Turkey
• White People (genetics)