Screening of the mitochondrial A1555G mutation in patients with sensorineural hearing loss
Summary: The A1555G mitochondrial mutation is the main alteration associated with aminoglycoside-induced deafness. Aim: to investigate the prevalence of the A1555G mutation in patients sensorineural hearing loss patients with and without aminoglycosides antibiotic use. Material and Method: a study o...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2008-09-01
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| Series: | Brazilian Journal of Otorhinolaryngology |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1808869415313847 |
| _version_ | 1818445965434028032 |
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| author | Luciano Pereira Maniglia Bruna Carolina Lemos Moreira Magali Aparecida Orate Menezes da Silva Vânia Belintani Piatto José Victor Maniglia |
| author_facet | Luciano Pereira Maniglia Bruna Carolina Lemos Moreira Magali Aparecida Orate Menezes da Silva Vânia Belintani Piatto José Victor Maniglia |
| author_sort | Luciano Pereira Maniglia |
| collection | DOAJ |
| description | Summary: The A1555G mitochondrial mutation is the main alteration associated with aminoglycoside-induced deafness. Aim: to investigate the prevalence of the A1555G mutation in patients sensorineural hearing loss patients with and without aminoglycosides antibiotic use. Material and Method: a study of 27 cases with deafness as the sample, and 100 neonates with normal hearing as the control group. DNA was extracted from blood leukocyte samples, and specific oligonucleotide primers were designed to amplify the cytochrome b gene and the region which encloses the A1555G mutation of the mitocondrial DNA using the polymerase chain reaction and restriction fragment length polymorphism. Design: a cross-sectional case study. Results: a region of the cytochrome b gene was amplified and the presence of the mtDNA was confirmed in all of the 127 cases. The A1555G mutation was not found in any of the 27 patients with hearing loss or the control group with 100 neonates. Conclusion: the results agree with studies stating that the A1555G mutation is not prevalent in the Americas. There is interest in establishing the real prevalence of this mutation and to investigate other mutations that may cause hearing loss, associated or not with the use of aminoglycosides, in the Brazilian population. Keywords: aminoglycosides, hearing loss, mitochondrial DNA, mutation |
| first_indexed | 2024-12-14T19:40:12Z |
| format | Article |
| id | doaj.art-1a34a4bd26d149829e37dc2e9905da1b |
| institution | Directory Open Access Journal |
| issn | 1808-8694 |
| language | English |
| last_indexed | 2024-12-14T19:40:12Z |
| publishDate | 2008-09-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Brazilian Journal of Otorhinolaryngology |
| spelling | doaj.art-1a34a4bd26d149829e37dc2e9905da1b2022-12-21T22:49:44ZengElsevierBrazilian Journal of Otorhinolaryngology1808-86942008-09-01745731736Screening of the mitochondrial A1555G mutation in patients with sensorineural hearing lossLuciano Pereira Maniglia0Bruna Carolina Lemos Moreira1Magali Aparecida Orate Menezes da Silva2Vânia Belintani Piatto3José Victor Maniglia4Master’s degree student, faculty member of the Otorhinolaryngology and Head & Neck Surgery Department, Medical School, S. J. Rio Preto, SP, FAMERPMedical student, Medical School, São José do Rio Preto, SP, FAMERPMaster’s degree; head of the Speech Therapy Unit, Otorhinolaryngology and Head & Neck Surgery Department, Medical School, S. J. Rio Preto, SP, FAMERPDoctor, Adjunct professor; Address for correspondence: Vânia Belintani Piatto - Rua Santina Figliagi Ceccato 450 ap. 23-A São José do Rio Preto SP 15035-180 Telephone: (0xx17) 3201-5747 - ou BIC - FAMERP (Research Initiation Scholarship - FAMERP)Livre-docente (habilitation) professor, head of the Otorhinolaryngology and Head & Neck Surgery Department, Medical School, S. J. Rio Preto, SP, FAMERP. Medical School, São José do Rio Preto, SP, FAMERPSummary: The A1555G mitochondrial mutation is the main alteration associated with aminoglycoside-induced deafness. Aim: to investigate the prevalence of the A1555G mutation in patients sensorineural hearing loss patients with and without aminoglycosides antibiotic use. Material and Method: a study of 27 cases with deafness as the sample, and 100 neonates with normal hearing as the control group. DNA was extracted from blood leukocyte samples, and specific oligonucleotide primers were designed to amplify the cytochrome b gene and the region which encloses the A1555G mutation of the mitocondrial DNA using the polymerase chain reaction and restriction fragment length polymorphism. Design: a cross-sectional case study. Results: a region of the cytochrome b gene was amplified and the presence of the mtDNA was confirmed in all of the 127 cases. The A1555G mutation was not found in any of the 27 patients with hearing loss or the control group with 100 neonates. Conclusion: the results agree with studies stating that the A1555G mutation is not prevalent in the Americas. There is interest in establishing the real prevalence of this mutation and to investigate other mutations that may cause hearing loss, associated or not with the use of aminoglycosides, in the Brazilian population. Keywords: aminoglycosides, hearing loss, mitochondrial DNA, mutationhttp://www.sciencedirect.com/science/article/pii/S1808869415313847 |
| spellingShingle | Luciano Pereira Maniglia Bruna Carolina Lemos Moreira Magali Aparecida Orate Menezes da Silva Vânia Belintani Piatto José Victor Maniglia Screening of the mitochondrial A1555G mutation in patients with sensorineural hearing loss Brazilian Journal of Otorhinolaryngology |
| title | Screening of the mitochondrial A1555G mutation in patients with sensorineural hearing loss |
| title_full | Screening of the mitochondrial A1555G mutation in patients with sensorineural hearing loss |
| title_fullStr | Screening of the mitochondrial A1555G mutation in patients with sensorineural hearing loss |
| title_full_unstemmed | Screening of the mitochondrial A1555G mutation in patients with sensorineural hearing loss |
| title_short | Screening of the mitochondrial A1555G mutation in patients with sensorineural hearing loss |
| title_sort | screening of the mitochondrial a1555g mutation in patients with sensorineural hearing loss |
| url | http://www.sciencedirect.com/science/article/pii/S1808869415313847 |
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