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Model Organisms for Understanding Peroxisomal Disorders

  • Shigeo TakashimaEmail author
  • Nobuyuki Shimozawa
Chapter

Abstract

Peroxisomal disorders are congenital human diseases caused by the dysfunction of peroxisomes, which are small vesicular organelles distributed in the cytoplasm. In patients suffering from these disorders, multiple defects manifest in a variety of tissues and organs, such as the brain, spinal cord, peripheral nerves, eyes, kidneys, liver, spleen, and bone. A number of biological metabolites are synthesized and degraded in the peroxisomes, such that the metabolites fluctuate severely in patients with peroxisomal disorders. A link between peroxisomal metabolites and symptoms of peroxisomal disorders has long been suspected; however, we have only limited knowledge about the pathology of this disease in humans due to the rarity of peroxisomal disorders. To overcome this problem, model organisms of peroxisomal disorders were established and studied in detail. These models successfully recapitulate the major human symptoms and have become powerful tools to understand the biological basis of the disease pathology and the development of therapeutic strategies against it.

Keywords

Peroxisomal disorders Peroxisome Very long chain fatty acid Phytanic acid Bile acid intermediates Plasmalogens Mouse Fruit fly Zebrafish Model organism 

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Copyright information

© Springer Nature Singapore Pte Ltd. 2019

Authors and Affiliations

  1. 1.Division of Genomics Research, Life Science Research CenterGifu UniversityGifu cityJapan
  2. 2.Division of Genomics Research, Life Science Research CenterGifu UniversityGifuJapan
  3. 3.Department of PediatricsGifu University School of MedicineGifuJapan

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