| Co-Investigator(Kenkyū-buntansha) |
NISHIKAWA Takeji Keio University School of Medicine, Department of Dermatology, Professor, 医学部, 教授 (50051579)
AMAGAI Masayuki Keio University School of Medicine, Department of Dermatology, Assistant Profess, 医学部, 講師 (90212563)
TANAKA Masaru Keio University School of Medicine, Department of Dermatology, Assistant Profess, 医学部, 講師 (40188339)
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| Research Abstract |
In this study, we have tried to establish the treatment system for epidermolysis bullosa using keratinocyte cell culture sheet and gene transfection. Herlitz junctional epidermolysis bullosa (H-JEB) is a lethal subtype of epidermolysis bullosa in which a complete deficiency of laminin 5. Laminin 5, a component of epidermal basement membrane, is composed of alpha3, beta3 and gamma2 polypeptide chains encoded b y LAMA3, LAMB3 and LAMC2 gene, respectively. Laminin 5 molecule is first synthesized in the basal keratinocytes as individual monomer, followed by glycosylation. Thereafter, beta3 and gamma2 chains assemble into a heterodimer, beta3gamma2, followed by incorporation of the alpha3 chain to form a heterotrimer, alpha3beta3gamma2. Only the assembled heterotrimer is secreted and processed by proteolytic enzyme to form the mature laminin 5 molecule. The complete deficiency of laminin 5 molecule due to gene mutation is known to result in a lethal type of autosomal recessive skin blistering disorder, Herlitz junctional epidermolysis bullosa (H-JEB). In this study, we showed the clinical and immunohistochemical features of this patient, and established the SV4O-transformed keratinocyte cell line, in which re-expression of beta3 chain of laminin 5 was confirmed by transfection with wild type LAMB3 cDNA.
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