title: Association between idiopathic hearing loss and mitochondrial DNA mutations: a study on 169 hearing-impaired subjects.
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.
authors: Bioacoustics Research Laboratory, Department of Neurosciences, University of Padua, I-35129 Padua, Italy. valeria.guaran@unipd.it
authors: Valeria
authors: V
authors: Guaran
authors: Laura
authors: L
authors: Astolfi
authors: Alessandro
authors: A
authors: Castiglione
authors: Edi
authors: E
authors: Simoni
authors: Elena
authors: E
authors: Olivetto
authors: Marco
authors: M
authors: Galasso
authors: Patrizia
authors: P
authors: Trevisi
authors: Micol
authors: M
authors: Busi
authors: Stefano
authors: S
authors: Volinia
authors: Alessandro
authors: A
authors: Martini
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000617:Aminoglycosides / Q000009:adverse effects; D002648:Child; D002675:Child, Preschool; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics / Q000378:metabolism; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000139:chemically induced / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009690:Nucleic Acid Conformation; D010641:Phenotype; D011110:Polymorphism, Genetic; D012335:RNA, Ribosomal / Q000235:genetics; D017422:Sequence Analysis, DNA; D055815:Young Adult
chemical_list: D000617:Aminoglycosides; D017630:Connexins; D004272:DNA, Mitochondrial; D012335:RNA, Ribosomal; C075526:RNA, ribosomal, 12S; D000072259:Connexin 26
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