[Mini review: animal model of human lysosomal storage disease]

Abstract

A number of true genetic animal model of human inborn errors of metabolism, caused by a specific enzyme defect are known. Recently, in addition to the naturally occurring diseases of animals, genetic engineering techniques such as transgenic or gene targetting, provide the animal models with specific gene defect. Such animal systems with lysosomal enzyme defect are summarized herein. Several animal model systems with lysosomal enzyme defect have been used to study the therapeutic strategies such as bone marrow transplantation and/or gene therapy. In this review, mucopolysaccharidosis VII mice treated with bone marrow transplantation and gene therapy, mucopolysaccharidosis VI rats and Niemann-Pick type C mice treated with bone marrow transplantation are mainly introduced. The latter two animals were established in Japan.