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Type C Niemann‐Pick disease fibroblasts and their transformed cell lines are hypersensitive to HMG‐CoA reductase inhibitors
Author(s) -
Yamamoto T.,
Ohashi T.,
Tokoro T.,
Maekawa K.,
Eto Y.
Publication year - 1994
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf00712014
Subject(s) - hmg coa reductase , reductase , niemann–pick disease , hydroxymethylglutaryl coa reductase , cell culture , medicine , biology , biochemistry , enzyme , cholesterol , genetics
Summary The deficiency of exogenous cholesterol transport within fibroblasts of Niemann‐Pick disease type C (NPC) has been addressed. In this Report we confirmed that the endogenous synthesis of cholesterol within cells was markedly increased in NPC fibroblasts and those transformed by origin‐defective simian virus 40. The transformed fibroblasts and those of the primary culture were hypersensitive to 3‐hydroxy‐3‐methylglutaryl‐coenzyme A reductase inhibitors as a consequence of their dependence on endogenous cholesterol biosynthesis. The transformed fibroblasts should help further biochemical and genetic research in this condition.