Investigation of the A1555G mutation in mitochondrial DNA (MT-RNR1) in groups of Brazilian individuals with nonsyndromic deafness and normal-hearing

Abstract

BACKGROUND:Mutations of mitochondrial DNA were described into two genes: The mitochondrially encoded 12S RNA (MT-RNR1) and the mitochondrially encoded tRNA serineucn (MT-TS1). The A1555G mutation in MT-RNR1 gene is a frequent cause of deafness in different countries.AIM:The aim of this work was to investigate the frequency of the A1555G mutation in the MT-RNR1 gene in the mitochondrial DNA in Brazilians individuals with nonsyndromic deafness, and listeners.MATERIALS AND METHODS:DNA samples were submitted to polymerase chain reaction and to posterior digestion with the Hae III enzyme.RESULTS:Seventy eight (78) DNA samples of deaf individuals were analyzed; 75 showed normality in the region investigated, two samples (2.5%) showed the T1291C substitution, which is not related to the cause of deafness, and one sample (1.3%) showed the A1555G mutation. Among the 70 non-impaired individuals no A1555G mutation or T1291C substitution was found.CONCLUSION:We can affirm that A1555G mutation is not prevalent, or it must be very rare in normal-hearing subjects in the State of Paraná, the south region of Brazil. The A1555G mutation frequency (1.3%) found in individual with nonsyndromic deafness is similar to those found in other populations, with nonsyndromic deafness. Consequently, it should be examined in deafness diagnosis. The investigation of the A1555G mutation can contribute towards the determination of the nonsyndromic deafness etiology, hence, contributing to the correct genetic counseling process.

Hearing Loss: Genetic Testing, Current Advances and the Situation in Latin America

“…Genetic studies of the GJB2 gene from the Latin American hearing loss population confirmed the importance of GJB2 variants as a frequent cause of non-syndromic sensorineural hearing loss, gave further support for the pathogenicity of many GJB2 variants and contributed to the description of novel pathogenic variants [48,[88][89][90][91][92][93][94][95][96][97][98][99]. Mitochondrial variants in Latin America are mostly studies of the m. 1555A > G variant [88,100,101]. Despite little information regarding the presence of other mitochondrial mutations [88], the presence of m. 1555A > G, in ~0.7% of all HL cases screened in the region makes it a good candidate for quick genetic screening to prevent drug induced ototoxicity.…”