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

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概要

• 論文の詳細を見る

• 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.

• 日本学士院の論文

著者

• OHNO Kousaku

  Department of Child Neurology, Institute of Neurological Sciences, Tottori University Faculty of Med

• SAKURABA HITOSHI

  Department of Clinical Genetics, the Tokyo Metropolitan Institute of Medical Science, Tokyo Metropol

• AKABOSHI Shinjiro

  Division of Neurology, Iustitute of Neurological sciences, Faculty of Medicine, Tottori University

• Akaboshi Shinjiro

  鳥取大学医学部附属脳幹性疾患研究施設

• Akaboshi Shinjiro

  鳥取大学 生命科学

• Akaboshi Shinjiro

  Division Of Child Neurology Institute Of Neurological Sciences Tottori University Faculty Of Medicin

• Akaboshi S

  Tottori Univ. Tottori

• TANIGUCHI Miyako

  Department of Neurobiology,School of Life Sciences,Tottori University Faculty of Medicine

• TAI Tadashi

  Department of Tumor,Immunology and Clinical Genetics,Tokyo Metropolitan Institute of Medical Science

• Ohno Kousaku

  Department Of Child Neurology Institute Of Neurological Sciences Faculty Of Medicine Tottori Univers

• Tai Tadashi

  Department Of Tumor Immunology And Clinical Genetics Tokyo Metropolitan Institute Of Medical Science

• Sakuraba Hitoshi

  Department Of Analytical Biochemistry Meiji Pharmaceutical University

• Akaboshi Shinjiro

  Division Of Child Neurology Institute Of Neurological Sciences. Tottori University

• Akaboshi Shinjiro

  Division Of Child Neurology Institute Of Neurological Sciences

• Yano Tamami

  Departments Of Pediatrics Akita University School Of Medicine

• Yano Tamami

  Division Of Neurobiology School Of Life Science Faculty Of Medicine Tottori University

• Yano Tamami

  Department Of Neurobiology School Of Life Science Faculty Of Medicine Tottori University

• Taniguchi Miyako

  Department Of Biological Regulation School Of Health Sciences Faculty Of Medicine Tottori University

• VANIER Marie-Thèrése

  Department of Biochemistry, INSERM-CNRS 189, Lyon-Sud School of Medicine

• Taniguchi Miyako

  Department Of Biological Regulation School Of Health Science Faculty Of Medicine Tottori University

• AKABOSHI Shinjiro

  Division of Child Neurology, Institute of Neurological Sciences, Tottori University Faculty 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

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