1999 Fiscal Year Final Research Report Summary
Joint Study on Hearing Loss with Mitochondrial Disorder
| Project/Area Number |
10044228
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| Research Category |
Grant-in-Aid for Scientific Research (B).
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Otorhinolaryngology
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| Research Institution | Shinshu University (1999)
Hirosaki University (1998) |
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Principal Investigator |
USAMI Shin-ichi School of Medicine, Shinshu University, Professor, 医学部, 教授 (10184996)
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| Project Period (FY) |
1998 – 1999
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| Keywords | hearing loss / mitochondria / genetics / prevelance / point mutation |
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| Research Abstract |
Mitochondrial mutations have been found to cause syndromic or non-syndromic sensorineural hearing loss(SNHL). In the present study, the frequency of three mitochondrial point mutations, 1555A->G, 3243A->G, and 7445A->G, known to be associated with hearing impairment, was examined using restriction fragment length polymorphism (RFLP) analysis in two Japanese groups: 1) 319 unrelated SNHL outpatients (including 21 with aminoglycoside antibiotic injection history), and 2) 140 cochlear implantation patients (including 22 with aminoglycoside-induced hearing loss). Approximately 3% of the outpatients and 10% of the cochlear implantation patients had the 1555A->G mutation. The frequency was higher in the patients with a history of aminoglycoside injection (outpatient group 33%; cochlear implantation group 59%). One outpatient (0.314%)had the 3243A->G mutation, but no outpatients had the 7445A->G mutation and neither were found in the cochlear implantation group. The significance of the 1555A->G mutation, the most prevalent mitochondrial mutation found in this study of a hearing impaired population in Japan, among subjects with specific backgrounds, such as aminoglycoside-induced hearing loss, is evident. Among them, the 1555A->G point mutation is associated with a susceptibility to aminoglycoside antibiotics, and is of particular interest as it may cause hearing loss even without aminoglycoside exposure. There may be a considerably large high-risk population in Japan and to avoid possible side effects in this group, a rapid mass screening system and careful counseling is recommended. We are currently using the MASA (Mutant Allele Specific Amplification)method to detect the 1555A->G mitochondrial mutation and we distribute a warning card to subjects found to bear this mutation.
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[Publications] Usami S, Abe S, Akita J, Namba A, Shinkawa H, Ishii M, Iwasaki S, Hoshino T, Ito J, Doi K, Kubo T, Nakagawa T, Komiyama S, Tono T, Kumune S.: "Prevalence of mitochondrial gene mutations among hearing impaired patients."J Med Genet. 37(1). 38-40 (2000)
Description
「研究成果報告書概要(欧文)」より
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