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Lipidomics of Peroxisomal Disorders

  • Kotaro HamaEmail author
  • Yuko Fujiwara
  • Kazuaki Yokoyama
Chapter

Abstract

Peroxisomes are cytoplasmic organelles that play a key role in metabolic and synthetic processes of various lipids. Peroxisomal disorders are caused by defects in peroxisome biogenesis or a peroxisomal single enzyme, and lead to multiple pathological features such as enlarged ventricles, demyelination, hearing loss and psychomotor retardation. Specific lipid profiles are observed for each peroxisomal disorder, which reflects the abnormal process in metabolism or synthesis of lipids. Therefore, lipid analysis of biological samples (e.g. blood plasma and fibroblasts) from patients is essential for the precise diagnosis and identification of responsible genes of peroxisomal disorders. Recent advances in mass spectrometry have enabled both identification and simultaneous quantification of a large number of lipid species. In this review, we introduce the principles of ‘lipidomics’ and the latest research using the lipidomic approach to study peroxisomal disorders.

Keywords

Lipidomics LC-ESI-MS PBD X-ALD 

Abbreviations

ABCD1

ATP-binding cassette sub-family D1

AMACR

A-methylacyl-CoA racemase

AOX

Acyl-CoA oxidase

DBP

D-bifunctional protein

DHCA

Dihydroxycholestanoic acid

ESI

Electrospray ionization

GC-MS

Gas chromatography–mass spectrometry

IMS

Imaging mass spectrometry

IRD

Infantile Refsum’s disease

LC

Liquid chromatography

MRM

Multiple reaction monitoring

MS

Mass spectrometry

MS/MS

Tandem mass

NALD

Neonatal adrenoleukodystrophy

PBD

Peroxisome biogenesis disorders

PC

Phosphatidylcholine

PE

Phosphatidylethanolamine

Q

Quadrupole

RCDP

Rhizomelic chondrodysplasia punctata

SCPx

Sterol carrier protein X

THCA

Trihydroxycholestanoic acid

TOF

Time-of-Flight

VLCFA

Very long chain fatty acids

X-ALD

X-linked adrenoleukodystrophy

ZS

Zellweger syndrome

Notes

Conflict of Interest

The authors declare that they have no conflict of interest.

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Copyright information

© Springer Nature Singapore Pte Ltd. 2019

Authors and Affiliations

  1. 1.Faculty of Pharma-SciencesTeikyo UniversityTokyoJapan

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