Accumulation of GM2 Ganglioside in Niemann-Pick Disease Type C Fibroblasts.

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  • YANO Tamami
    Department of Neurobiology, School of Life Sciences, Tottori University Faculty of Medicine
  • TANIGUCHI Miyako
    Department of Neurobiology, School of Life Sciences, Tottori University Faculty of Medicine
  • AKABOSHI Shinjiro
    Division of Child Neurology, Institute of Neurological Sciences, Tottori University Faculty of Medicine
  • VANIER Marie-Thèrése
    Department of Biochemistry, INSERM-CNRS 189, Lyon-Sud School of Medicine
  • TAI Tadashi
    Departments of Tumor Immunology and Clinical Genetics, Tokyo Metropolitan Institute of Medical Scinece
  • SAKURABA Hitoshi
    Departments of Tumor Immunology and Clinical Genetics, Tokyo Metropolitan Institute of Medical Scinece
  • OHNO Kousaku
    Department of Neurobiology, School of Life Sciences, Tottori University Faculty of Medicine

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タイトル別名
  • Accumulation of GM2 Ganglioside in Niem

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Niemann-Pick disease type C (NP-C) is an autosomal recessive neurovisceral lipid storage disorder biochemically characterized by a defect in intracellular transport of low-density lipoprotein (LDL)-derived cholesterol from the lysosome to other cellular sites. We have found substantial accumulation of GM2 ganglioside in NP-C fibroblasts. The intracellular distribution of GM2 ganglioside was similar to that of cholesterol detected by filipin staining, indicating that the accumulation of GM2 ganglioside is mainly lysosomal. The incorporation of N-acetyl-D-[3H]mannosamine into gangliosides was also increased in NP-C fibroblasts, especially into the GM2 and GM3 fractions. A culture condition which eliminates cholesterol accumulation does not eliminate GM2 accumulation. It is suggested that the accumulation of GM2 ganglioside together with the accumulation of cholesterol is a unique abnormality in NP-C fibroblasts and that the defect in NP-C may involve intracellular transport of both cholesterol and GM2 ganglioside.

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