scholarly journals Screening of the mitochondrial A1555G mutation in patients with sensorineural hearing loss

2008 ◽  
Vol 74 (5) ◽  
pp. 731-736 ◽  
Author(s):  
Luciano Pereira Maniglia ◽  
Bruna Carolina Lemos Moreira ◽  
Magali Aparecida Orate Menezes da Silva ◽  
Vânia Belintani Piatto ◽  
José Victor Maniglia
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
A1555g Mutation

scholarly journals Phylogenetic analysis of mitochondrial DNA in Japanese pedigrees of sensorineural hearing loss associated with the A1555G mutation

1998 ◽  
Vol 6 (6) ◽  
pp. 563-569 ◽  
Author(s):  
Satoko Abe ◽  
Shin-ichi Usami ◽  
Hideichi Shinkawa ◽  
MikeD Weston ◽  
LarryD Overbeck ◽  
...  
Keyword(s):  
Phylogenetic Analysis ◽  
Hearing Loss ◽  
Mitochondrial Dna ◽  
Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
A1555g Mutation

scholarly journals Mitochondrial non-syndromic sensorineural hearing loss: a clinical, audiological and pathological study from Italy, and revision of the literature

2008 ◽  
Vol 28 (1) ◽  
pp. 49-59 ◽  
Author(s):  
Stefano Berrettini ◽  
Francesca Forli ◽  
Susanna Passetti ◽  
Anna Rocchi ◽  
Luca Pollina ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Mitochondrial Dna ◽  
Sensorineural Hearing Loss ◽  
Hearing Impairment ◽  
Sensorineural Hearing ◽  
Pathological Study ◽  
Mtdna Mutations ◽  
A1555g Mutation ◽  
Sensorineural Hearing Impairment

Over the last decade, a number of distinct mutations in the mtDNA (mitochondrial DNA) have been found to be associated with both syndromic and non-syndromic forms of hearing impairment. Their real incidence as a cause of deafness is poorly understood and generally underestimated. Among the known mtDNA mutations, the A1555G mutation in the 12S gene has been identified to be one of the most common genetic cause of deafness, and it has been described to be both associated to non-syndromic progressive SNHL (sensorineural hearing loss) and to aminoglycoside-induced SNHL. In the present study, we have investigated the presence of mtDNA alterations in patients affected by idiopathic non-syndromic SNHL, both familiar and sporadic, in order to evaluate the frequency of mtDNA alterations as a cause of deafness and to describe the audiological manifestations of mitochondrial non-syndromic SNHL. In agreement with previous studies, we found the A1555G mutation to be responsible for a relevant percentage (5.4%) of cases affected with isolated idiopathic sensorineural hearing impairment.

Cochlear implantation in a patient with profound hearing loss with the A1555G mitochondrial DNA mutation and no history of aminoglycoside exposure

2005 ◽  
Vol 120 (3) ◽  
pp. 230-232 ◽  
Author(s):  
S Arif Ulubil ◽  
Alexis D Furze ◽  
Simon I Angeli
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Cochlear Implantation ◽  
Sensorineural Hearing ◽  
Mtdna Mutation ◽  
Mitochondrial Dna Mutation ◽  
Profound Hearing Loss ◽  
Dna Mutation ◽  
A1555g Mutation ◽  
History Of

The A1555G mitochondrial deoxyribonucleic acid (mtDNA) point mutation has classically been associated with sensorineural hearing loss in patients following aminoglycoside exposure. More recently, the mutation has been implicated in sensorineural hearing loss in patients without previous aminoglycoside use. In addition, cochlear implantation has been shown to be effective in the group of patients with prior aminoglycoside exposure but, to date, no case of cochlear implantation in a patient with the A1555G mutation and no prior exposure to aminoglycosides has been explicitly described in the literature.We report the case of an 80-year-old woman with the A1555G mtDNA mutation, a 35-year history of bilateral progressive hearing loss and no history of aminoglycoside exposure who underwent successful implantation of a Nucleus 24 Contour device at our institution. Post-operatively, the patient exhibited marked improvement in tests of auditory performance.We conclude that cochlear implantation can be an effective method to restore some sense of hearing in patients with the A1555G mtDNA mutation and sensorineural hearing loss.

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