Correction by gene expression of biochemical abnormalities in fibroblasts from Zellweger patients

Nobuyuki Shimozawa, Yasuyuki Suzuki, Shunji Tomatsu, Toshiro Tsukamoto, Takashi Osumi, Yukio Fujiki, Keiju Kamijo, Takashi Hashimoto, Naomi Kondo, Tadao Orii

研究成果: Article査読

6 被引用数 (Scopus)

抄録

Zellweger syndrome is a prototype of peroxisomal biogenesis disorders and a fatal autosomal recessive disease with no effective therapy. We identified nine genetic complementation groups of these disorders, and mutations in peroxisome assembly factor-1 (PAF-1) and the 70-kD peroxisomal membrane protein (PMP70) genes have been detected by our group F and Roscher's group I, respectively. We now describe permanent recovery from generalized peroxisomal abnormalities in fibroblasts of a Zellweger patient from group F, such as biochemical defects of peroxisomal β-oxidation, plasmalogen biosynthesis, and morphologic absence of peroxisomes, by stable transfection of human cDNA encoding PAF-1. In the light of these observations, we designed a gene expression system using fibroblasts from patients with peroxisomal biogenesis disorders. In Zellweger fibroblasts obtained from Roscher's group I and transfected with human cDNA encoding PMP70, peroxisomes were not morphologically identifiable, and peroxisomal function did not normalize.

本文言語English
ページ(範囲)812-815
ページ数4
ジャーナルPediatric Research
39
5
DOI
出版ステータスPublished - 1996 5

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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