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Model Organisms for Understanding Peroxisomal Disorders

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Peroxisomes: Biogenesis, Function, and Role in Human Disease

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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.

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Authors and Affiliations

  1. Division of Genomics Research, Life Science Research Center, Gifu University, Gifu city, Gifu, Japan

    Shigeo Takashima

  2. Division of Genomics Research, Life Science Research Center, Gifu University, Gifu, Japan

    Nobuyuki Shimozawa

  3. Department of Pediatrics, Gifu University School of Medicine, Gifu, Japan

    Nobuyuki Shimozawa

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  1. Shigeo Takashima
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  2. Nobuyuki Shimozawa
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Correspondence to Shigeo Takashima .

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Editors and Affiliations

  1. Faculty of Pharmaceutical Sciences, Hiroshima International University, Kure, Hiroshima, Japan, University of Toyama, Toyama, Japan

    Tsuneo Imanaka

  2. Division of Genomics Research, Life Science Research Center, Gifu University, Gifu, Japan, Department of Pediatrics, Gifu University School of Medicine, Gifu, Japan

    Nobuyuki Shimozawa

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Takashima, S., Shimozawa, N. (2019). Model Organisms for Understanding Peroxisomal Disorders. In: Imanaka, T., Shimozawa, N. (eds) Peroxisomes: Biogenesis, Function, and Role in Human Disease. Springer, Singapore. https://doi.org/10.1007/978-981-15-1169-1_6

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