The search of a genetic basis for noise-induced hearing loss (NIHL)

Background and aim: Knowledge about the genetic factors responsible for noise-induced hearing loss (NIHL) is still limited. This study investigated whether genetic factors are associated or not to susceptibility to NIHL. Subjects and methods: The family history and genotypes were studied for candidate genes in 107 individuals with NIHL, 44 with other causes of hearing impairment and 104 controls. Mutations frequently found among deaf individuals were investigated (35delG, 167delT in GJB2, Delta(GJB6- D13S1830), Delta(GJB6- D13S1854) in GJB6 and A1555G in MT-RNR1 genes); allelic and genotypic frequencies were also determined at the SNP rs877098 in DFNB1, of deletions of GSTM1 and GSTT1 and sequence variants in both MTRNR1 and MTTS1 genes, as well as mitochondrial haplogroups. Results: When those with NIHL were compared with the control group, a significant increase was detected in the number of relatives affected by hearing impairment, of the genotype corresponding to the presence of both GSTM1 and GSTT1 enzymes and of cases with mitochondrial haplogroup L1. Conclusion: The findings suggest effects of familial history of hearing loss, of GSTT1 and GSTM1 enzymes and of mitochondrial haplogroup L1 on the risk of NIHL. This study also described novel sequence variants of MTRNR1 and MTTS1 genes.

Role of the Mitochondrial Mutations, m. 827A > G and the Novel m. 7462C > T, in the Origin of Hearing Loss

Samples from 30 deaf probands exhibiting features suggestive of syndromic mitochondrial deafness or from families with maternal transmission of deafness were selected for investigation of mutations in the mitochondrial genes MT-RNR1 and MT-TS1. Patients with mutation m. 1555A>G had been previously excluded from this sample. In the MT-RNR1 gene, five probands presented the m. 827A>G sequence variant, of uncertain pathogenicity. This change was also detected in 66 subjects of an unaffected control sample of 306 Brazilian individuals from various ethnic backgrounds. Given its high frequency, we consider it unlikely to have a pathogenic role on hereditary deafness. As to the MT-TS1 gene, one proband presented the previously known pathogenic m. 7472insC mutation and three probands presented a novel variant, m. 7462C>T, which was absent from the same control sample of 306 individuals. Because of its absence in control samples and association with a family history of hearing impairment, we suggest it might be a novel pathogenic mutation.

A review of the tectonic evolution of the Sunsas belt, SW Amazonian Craton

The Sunsas-Aguapei province (1.20-0.95 Ga), SW Amazonian Craton, is a key area to study the heterogeneous effects of collisional events with Laurentia, which shows evidence of the Grenvillian and Sunsas orogens. The Sunsas orogen, characterized by an allochthonous collisional-type belt (1.11-1.00 Ga), is the youngest and southwestern most of the events recorded along the cratonic fringe. Its evolution occurred after a period of long quiescence and erosion of the already cratonized provinces (>1.30 Ga), that led to sedimentation of the Sunsas and Vibosi groups in a passive margin setting. The passive margin stage was roughly contemporary with intraplate tectonics that produced the Nova Brasilandia proto-oceanic basin (<1.21 Ga), the reactivation of the Ji-Parana shear zone network (1.18-1.12 Ga) and a system of aborted rifts that evolved to the Huanchaca-Aguapei basin (1.17-1.15 Ga). The Sunsas belt is comprised by the metamorphosed Sunsas and Vibosi sequences, the Rincon del Tigre mafic-ultramafic sill and granitic intrusive suites. The latter rocks yield epsilon(Nd(t)) signatures (-0.5 to -4.5) and geochemistry (S,1, A-types) suggesting their origin associated with a continental arc setting. The Sunsas belt evolution is marked by ""tectonic fronts"" with sinistral offsets that was active from c. 1.08 to 1.05 Ga, along the southern edge of the Paragua microcontinent where K/Ar ages (1.27-1.34 Ga) and the Huanchaca-Aguapei flat-lying cover attest to the earliest tectonic stability at the time of the orogen. The Sunsas dynamics is coeval with inboard crustal shortening, transpression and magmatism in the Nova Brasilandia belt (1.13-1.00 Ga). Conversely, the Aguapei aulacogen (0.96-0.91 Ga) and nearby shear zones (0.93-0.91 Ga) are the late tectonic offshoots over the cratonic margin. The post-tectonic to anorogenic stages took place after ca. 1.00 Ga, evidenced by the occurrences of intra-plate A-type granites, pegmatites, mafic dikes and sills, as well as of graben basins. Integrated interpretation of the available data related to the Sunsas orogen supports the idea that the main nucleus of Rodinia incorporated the terrains forming the SW corner of Amazonia and most of the Grenvillian margin, as a result of two independent collisional events, as indicated in the Amazon region by the Ji-Parana shear zone event and the Sunsas belt, respectively. (C) 2009 Elsevier Ltd. All rights reserved.