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Peroxisome Biogenesis Disorders

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Peroxisome Biology: Experimental Models, Peroxisomal Disorders and Neurological Diseases

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 1299))

Abstract

Peroxisomes are presented in all eukaryotic cells and play essential roles in many of lipid metabolic pathways, including β-oxidation of fatty acids and synthesis of ether-linked glycerophospholipids, such as plasmalogens. Impaired peroxisome biogenesis, including defects of membrane assembly, import of peroxisomal matrix proteins, and division of peroxisome, causes peroxisome biogenesis disorders (PBDs). Fourteen complementation groups of PBDs are found, and their complementing genes termed PEXs are isolated. Several new mutations in peroxins from patients with mild PBD phenotype or patients with phenotypes unrelated to the commonly observed impairments of PBD patients are found by next-generation sequencing. Exploring a dysfunctional step(s) caused by the mutation is important for unveiling the pathogenesis of novel mutation by means of cellular and biochemical analyses.

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Abbreviations

CGs:

complementation groups

CHO:

Chinese hamster ovary

EST:

expressed sequencing tag

IRD:

infantile Refsum disease

NALD:

neonatal adrenoleukodystrophy

PBDs :

peroxisome biogenesis disorders

PTS :

peroxisomal targeting signal

RCDP :

rhizomelic chondrodysplasia punctata

VLCFA :

very-long chain fatty acids

WGS :

whole-genome sequencing

ZSDs :

Zellweger spectrum disorders

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Acknowledgments

We apologize to the colleagues in this field for not citing all their work due to space limitations. We thank M. Ishii for figure illustrations. This work was supported in part by Grants-in-Aid for Scientific Research: JP17K07337 (to M.H.), JP17K07310 (to K.O.), JP19K06567 (to S.T.), and JP24247038, JP25112518, JP25116717, JP 26116007, JP15K14511, and JP117H03675 (to Y.F.) and from the Ministry of Education, Culture, Sports, Science and Technology of Japan and grants from the Takeda Science Foundation and the Naito Foundation to Y.F.

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Authors and Affiliations

  1. Institute of Rheological Functions of Food, Fukuoka, Japan

    Masanori Honsho & Yukio Fujiki

  2. Department of Biology, Faculty of Sciences, Kyushu University Graduate School, Fukuoka, Japan

    Kanji Okumoto

  3. Faculty of Arts and Science, Kyushu University, Fukuoka, Japan

    Shigehiko Tamura

  4. Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan

    Yukio Fujiki

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  1. Masanori Honsho
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  2. Kanji Okumoto
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  3. Shigehiko Tamura
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  4. Yukio Fujiki
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Correspondence to Yukio Fujiki .

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Editors and Affiliations

  1. Team ‘Biochemistry of the Peroxisome, Inflammation and Lipid Metabolism’ EA 7270/University of Bourgogne Franche-Comté/Inserm, Dijon, France

    Gérard Lizard

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Honsho, M., Okumoto, K., Tamura, S., Fujiki, Y. (2020). Peroxisome Biogenesis Disorders. In: Lizard, G. (eds) Peroxisome Biology: Experimental Models, Peroxisomal Disorders and Neurological Diseases. Advances in Experimental Medicine and Biology, vol 1299. Springer, Cham. https://doi.org/10.1007/978-3-030-60204-8_4

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