TAILIEUCHUNG - Gaucher disease: pathological mechanisms and modern management

By transforming the paradigm for how health develops, a life-course approach provides a strong public policy rationale for health systemtransformation. It dem- onstrates how disadvantage during childhood diminishes future prospects by re- ducing a child’s health potential, which in turn directly harms educational out- comes and future social competence and accelerates the acquisition and severity of health problems in later years. 9 This approach emphasizes investments focused on prevention, health promotion, and improving the conditions of children’s lives. Despite growing acceptance of the life-course model of health development, . children’s health care policy has to date been largely unaffected by these empiri- cally based conceptual changes | review Gaucher disease pathological mechanisms and modern management Marina Jmoudiak and Anthony H. Futerman Department of Biological Chemistry Weizmann Institute of Science Rehovot Israel Summary Gaucher disease the most common lysosomal storage disorder is caused by the defective activity of the lysosomal enzyme acid-b-glucosidase GlcCerase leading to accumulation of glucosylceramide GlcCer particularly in cells of the macrophage lineage. Nearly 200 mutations in GlcCerase have been described but for the most part genotype-phenotype correlations are weak and little is known about the down-stream biochemical changes that occur upon GlcCer accumulation that result in cell and tissue dysfunction. In contrast the clinical course of Gaucher disease has been well described and at least one treatment is available namely enzyme replacement therapy. One other treatment substrate reduction therapy has recently been marketed and others are in early stages of development. This review after discussing pathological mechanisms evaluates the advantages and disadvantages of existing therapies. Keywords Gaucher disease lysosomal storage disease gluco-cerebrosidase enzyme replacement therapy macrophage. Gaucher disease GD is a lysosomal storage disorder LSD . These metabolic disorders are caused by mutations in genes encoding a single lysosomal enzyme or cofactor resulting in intracellular accumulation of undegraded substrates Neufeld 1991 Futerman van Meer 2004 . Most LSDs including GD are inherited in an autosomal recessive fashion. In GD 200 different mutations have been described in the gene encoding lysosomal glucocerebrosidase glucosylceramidase GlcCerase Beutler Grabowski 2001 and as a result glucosylceramide GlcCer glucosylcerebroside is degraded much more slowly than in normal cells and accumulates intracellularly primarily in cells of mononuclear phagocyte origin. These GlcCer-laden macrophages are known as Gaucher cells and are the classical hallmark of the disease. Since

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