1999 Fiscal Year Final Research Report Summary
Elucidation of Pathogenetic Mechanisms of Severe Ichthyoses and Establishment of New Method for the Diagnosis and Prenatal Disease Detection
| Project/Area Number |
10557082
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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 | 展開研究 |
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| Research Field |
Dermatology
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| Research Institution | Keio University |
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Principal Investigator |
NISHIKAWA Takeji Keio Univ. School of Medicine, Dept.of Dermatology, Professor, 医学部, 教授 (50051579)
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| Co-Investigator(Kenkyū-buntansha) |
AKIYAMA Masashi Teikyo Univ. School of Medicine, Dept.of Dermatology, Associate Professor, 医学部, 助教授 (60222551)
SHIMIZU Hiroshi Hokkaido Univ. School of Medicine, Dept.of Dermatology, Professor, 医学部, 教授 (00146672)
AMAGAI Masayuki Keio Univ. School of Medicine, Dept.of Dermatology, Assistant Professor, 医学部, 専任講師 (90212563)
MASUNAGA Takuji KOSE Corporation, Reasearcher, 研究員
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| Project Period (FY) |
1998 – 1999
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| Keywords | cornified cell envelope / gene mutation / genodermatosis / ichthyosis / immunoelectron microscopy / non-bullous congenital ichthyosiform erthroderma / prenatal diagnosis / transglutaminase 1 |
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| Research Abstract |
Pathogenetic mechanisms of autosomal recessive congenital ichthyosis are still unknown although malformation or the cornified cell envelope arising from mutations of the transglutaminase (Tgase) 1 gene is reported to be the cause of sine cases of lamellar ichthyosis. In this study, using immunofluorescence, immunoelectron microscopic and molecular genetic techniques, pathogenetic mechanisms of several types of autosomal recessive severe ichthyosis were investigated in many affected Japanese families. Immunofluorescent and immunoelectron microscopic observations revealed that abnormality in expression and distribution of several proteins associated with cornified cell envelope formation in the epidermal keratinocytes. Heteroduplex analysis and direct sequencing or the PCR-amplified genes were performed to the putative responsible genes for the ichthyosis phenotypes from results of the morphologic observations. The mutations found were confirmed by restriction enzyme cutting and allele specific oligonucleotide hybfidization methods. In some families, precise and definite diagnosis can be made on the basis of the information of responsible genes. In addition, the results of this study contributed to the establishment of methodology of early prenatal diagnosis of the severe congenital ichthyoses.
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Research Products
(12 results)
