Association between idiopathic hearing loss and mitochondrial DNA mutations: a study on 169 hearing-impaired subjectsShow others and affiliations
2013 (English)In: International Journal of Molecular Medicine, ISSN 1107-3756, E-ISSN 1791-244X, Vol. 32, no 4, p. 785-794Article in journal (Refereed) Published
Abstract [en]
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.
Place, publisher, year, edition, pages
Athen: Spandidos Publications , 2013. Vol. 32, no 4, p. 785-794
National Category
Otorhinolaryngology Cell and Molecular Biology
Identifiers
URN: urn:nbn:se:oru:diva-97818DOI: 10.3892/ijmm.2013.1470ISI: 000323725200006PubMedID: 23969527Scopus ID: 2-s2.0-84883313664OAI: oai:DiVA.org:oru-97818DiVA, id: diva2:1641951
Note
Funding agency:
Ospedale Infantile e Pie Fondazioni Burlo Garofolo e dott. Alessandro ed Aglaia de Manussi' Trieste
2022-03-032022-03-032022-03-07Bibliographically approved