2001 Fiscal Year Final Research Report Summary
The multiple case studies of congenital ichthyosiform erythroderma in Japan ; investigation for their diagnosis, pathogenesis and treatment.
| Project/Area Number |
11670851
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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 |
Dermatology
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| Research Institution | Juntendo University |
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Principal Investigator |
SUGA Yasushi Juntendo University, assistant professor, 医学部, 講師 (90245738)
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| Co-Investigator(Kenkyū-buntansha) |
YAGUCHI Hitoshi Juntendo University, assistant professor, 医学部, 講師 (60191095)
IKEDA Shigaku Juntendo University, assistant professor, 医学部, 講師 (40193198)
INABA Yutaka Juntendo University, professor, 医学部, 教授 (30010094)
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| Project Period (FY) |
1999 – 2001
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| Keywords | transglutaminase / sulfhydryl oxidase / congenital ichthyosiform erythroderma / congenital ichthyosis / gene analysis |
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| Research Abstract |
The congenital ichthyosiform erythroderma (CIE) is a group of rare genodermatoses with keratinization disorders characterized by varying degrees of erythema and hyperkeratosis. We organized to perform multiple case studies of CIE in Japan, including the investigation for their diagnosis, pathogenesis and treatment. 1. Proposal for a new classification of hereditary keratoses. We propose to classify hereditary keratoses into three groups according to the sites that they affect. In the future, more genetic mutations responsible for hereditary keratosis will doubtless be identified. Therefore, diagnoses based on molecular biology should provide us with the means to construct an ideal nosology of hereditary keratoses. 2. Diagnosis of gene mutations in Japanese patients with CIE. We have found some genetic mutations of keratin 1 and 10 in 5 case ofbullous-type CIE, which includes 2 Japanese cases from our hospital. All the mutations were detected in the 1A region of keratin gene. Correlatio
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n of genotype-phenotype was recognized in all of the cases. On the other hand, we have found a novel mutation of transglutaminase (Tgasel) gene in one pedigree of nonbullous-type CIE. 3. Molecular biological investigation of Sox in nonbullous-type CIE patients. The formation of barrier and disulfide bonds in the epidermis was aborted in 2 families of nonbullous-type CIE with DACM staining. Therefore, epidermal sulfhydryl oxidase (Sox) forming S-S bonds in the skin could be a pathogenic gene for these cases. To get further information, cDNA cloning of Sox from human and mouse epidermis was carried out. 4. In vivo studies ofnonbullous-type CIE by using mouse models. The formation of S-S bonds and the role of Sox were examined with loricrin knockout mouse supplied by Dr Roop (Baylor College). The Sox knockout mouse for investigating nonbullous-type CIE was on preparation. 5.Research on the new treatment for nonbullous-type CIE. Vitamin D3 and tacrolimus applications, and photochemotherapy with UVA have been tested for treating intractable CIEs. These results have contributed the convalescence in the CIE patients. Less
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