1999 Fiscal Year Final Research Report Summary
Gene Analysis and Mutation Screening of Myosin VIIA Gene in Sensorineural Hearing Loss Patients
| Project/Area Number |
10671609
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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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 | Jichi Medical School |
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Principal Investigator |
SUGAWARA Komei Jichi Medical School, Dept. of Otolaryngology, Assistant Professor, 医学部, 講師 (50179123)
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| Co-Investigator(Kenkyū-buntansha) |
ICHIMURA Keiichi Jichi Medical School, Dept. of Otolaryngology, Professor, 医学部, 教授 (00010471)
KAKOI Hiroyuki Jichi Medical School, Dept. of Otolaryngology, Assistant Professor, 医学部, 助教授 (40201412)
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| Project Period (FY) |
1998 – 1999
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| Keywords | hereditary hearing loss / gene analysis / myosin / connexin |
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| Research Abstract |
We analyzed the mutation of the myosin VIIA gene in Japanese hereditary hearing loss pedigree. This mutation caused sensorineural hearing loss in an autosomal dominant (AD) manner so that we surveyed the presence of mutation among members of this family who wished to be analyzed. Because patients with hearing loss possesses the 9-base deletions on their myosin VIIA gene, we extracted the genome DNAs from blood and decided the sequence of myosin VIIA gene. All patients had the 9-base deletions in one of a pair chromosome (heterozygotes). But no good-hearing persons had any mutations. The hearing of these patients got worse age-dependently and they showed moderate to severe hearing loss in adulthood. We could advise the young people in this family whether they would suffer from hearing loss in future or not.
We also analyzed the mutation of myosin VIIA gene in another pedigrees of AD hereditary hearing loss, whereas no mutant-family could be detected.
There was no report that myosin VIIA mutation existed in the autosomal recessive (AR) hearing loss family, so that we expected these families possessed the another gene-mutaions. We selected the connexin 26 gene which mutation was reported in any AR hearing loss families. We found 2 families which possessed the mutations in their connexin 26 gene, although these mutations had previously been reported. Screening of connexin 26 gene in AR hearing loss families is now ongoing.
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