Mutations in mitochondrial DNA (mtDNA) have been shown to be an important cause of sensorineural hearing loss (SNHL). In this study, we performed a clinical and genetic analysis of 169 hearing-impaired patients and some of their relatives suffering from idiopathic SNHL, both familial and sporadic. The analysis of four fragments of their mtDNA identified several polymorphisms, the well known pathogenic mutation, A1555G, and some novel mutations in different genes, implying changes in the aminoacidic sequence. A novel sporadic mutation in 12S rRNA (MT-RNR1), not previously reported in the literature, was found in a case of possible aminoglycoside-induced progressive deafness.

Association between idiopathic hearing loss and mitochondrial DNA mutations: a study on 169 hearing-impaired subjects

SIMONI, Edi;GALASSO, Marco;VOLINIA, Stefano;
2013

Abstract

Mutations in mitochondrial DNA (mtDNA) have been shown to be an important cause of sensorineural hearing loss (SNHL). In this study, we performed a clinical and genetic analysis of 169 hearing-impaired patients and some of their relatives suffering from idiopathic SNHL, both familial and sporadic. The analysis of four fragments of their mtDNA identified several polymorphisms, the well known pathogenic mutation, A1555G, and some novel mutations in different genes, implying changes in the aminoacidic sequence. A novel sporadic mutation in 12S rRNA (MT-RNR1), not previously reported in the literature, was found in a case of possible aminoglycoside-induced progressive deafness.
V., Guaran; L., Astolfi; A., Castiglione; Simoni, Edi; E., Olivetto; Galasso, Marco; P., Trevisi; M., Busi; Volinia, Stefano; A., Martini
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11392/1952637
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