Prevalence of the mitochondrial DNA A1555G mutation in sensorineural deafness patients in island Southeast Asia

Abstract

A mtDNA A1555G base substitution in a highly conserved region of the 12S rRNA gene has been reported to be the main cause of aminoglycoside induced deafness. This mutation is found in approximately 3% of Japanese and 0.5-2.4% of European sensorineural deafness patients. We report a high prevalence (5.3%) of the A1555G mutation in sensorineural deafness patients in Sulawesi (Indonesia). Our result confirms the importance of determining the prevalence of the mtDNA A1555G mutation in different populations, and the need for mutation detection before the administration of aminoglycoside antibiotics.

Complete Mitochondrial Genome Analysis and Clinical Documentation of a Five-Generational Indian Family with Mitochondrial 1555A>G Mutation and Postlingual Hearing Loss

“…The m.709G>A mutation of the MT-RNR1 gene seen in this study is reported to be polymorphic, but this mutation was observed in Arab-Israeli, Indonesian and Chinese pedigrees along with the m.1555A>G mutation (Prezant et al, 1993;Malik et al, 2003;Wang et al, 2008). The mutation m.1406T>C in the same gene was reported to be a rare mutation, observed in two idiopathic hearing loss subjects presenting audiograms compatible with a mitochondrial mutation hearing loss (Guaran et al, 2013) and in pancreatic cancer patient cell lines (Jones et al, 2001).…”

“…Etiology can be due to genetic or environmental factors or a combination of both; it is broadly divided found in many nonsyndromic hearing loss pedigrees of different ethnic origin with variable clinical phenotypes (Hutchin et al, 1993;Shoffner et al, 1994;Matthijs et al, 1996;ElSchahawi et al, 1997;Gardner et al, 1997;Pandya et al, 1997;Casano et al, 1998;Lehtonen et al, 2000;Malik et al, 2003;Young et al, 2005;Mkaouar-Rebai et al, 2006;Pupo et al, 2008;Bae et al, 2012). On rare occasions, this mutation has also been reported in individuals with Waardenburg syndrome, digital and neural tube defects (Nye et al, 2000;Silan et al, 2011).…”

Rastreamento da mutação mitocondrial A1555G em pacientes com deficiência auditiva sensorioneural

“…15,16 Similarly, the frequency of mitochondrial mutations also differs among populations; the A1555G mutation is found mostly in patients with maternally inherited hearing loss, although it has been sporadically identified in patients with hereditary autosomal recessive conditions. There are major differences in ethnic origin in both transmission modes, as revealed by recent studies showing the mutation to be a frequent cause of non-syndromic hearing loss, associated or not with aminoglycoside use, in Asian, 11,[17][18][19][20][21] Arab, 22 and South African 23 populations. It is, however, rare in most of the European and American populations.…”

Mitochondrial rRNA and tRNA and hearing function

“…The mutation can be found in 0.6-2.5% of the Caucasian clinical population with nonsyndromic SNHL [68]. In the Asian nonsyndromic hearing-impaired populations, the incidence of the A1555G mutation appears to be higher than in Caucasians: 2.9% in Chinese [39], 3% in Japanese [69], and 5.3% in Indonesia [70]. In a recent study, however, it has been reported that as much as 17% of Spanish population with postlingual nonsyndromic hearing loss assessed in a single Otolaryngology Department carried this mutation [71]; and this is a very high rate of incidence, which is not comparable to other Caucasian populations.…”