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Cited by 22Metabolism and Genetic DisordersLysosomal Storage Disorders ResearchLipid metabolism and biosynthesis

Metabolic Studies of Adrenoleukodystrophy

Ogino, Tadashi, Schaumburg, Herbert H., Suzuki, Kunihiko, Kishimoto, Yasuo, Moser, Ann E.·1978·Advances in Experimental Medicine and Biology
DOI 10.1007/978-1-4684-2514-7_44
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Abstract

Two series of metabolic studies were prompted by the previous finding that the brain and adrenal tissues of patients with adrenoleukodystrophy, an X-linked genetic disorder, contain unusually long-chain (C22--C32) fatty acids in cholesterol esters and gangliosides. Postmortem brain tissues from three patients were assayed for activities of the three distinct cholesterol ester hydrolases, using [4-14C]cholesterol oleate, lignocerate and cerotate as the substrates. No deficiency of the crude mitochrondrial (pH 4.2), the microsomal (pH 6.0), or the myelin-localized cholesterol ester hydrolases was detected, although the activities of the myelin-localized cholesterol ester hydrolase against cholesteryl lignocerate and cerotate were too low for reliable assays. The activities of the microsomal and myelin-localized hydrolases were actually higher in adrenoleukodystrophy than in controls. Uptake and exclusion by cultured fibroblasts of [1-14C]stearic, [1-14C]lignoceric and [1-14C)cerotic acids were also examined. All fatty acids were avidly taken up by the fibroblasts. Stearic acid was excluded from the cells much more rapidly than lignoceric or cerotic acid. No difference was observed in the uptake and exclusion of fatty acids between the controls and adrenoleukodystrophy, except that cells from some cases of adrenoleukodystrophy consistently took up the very long chain fatty acids at greater rates than the control cells. Neither did the distribution of the label among individual lipids reveal differences between the controls and adrenoleukodystrophy, although there were interesting and dramatic differences in the metabolism of lignoceric acid and cerotic acid. Cerotic acid appeared largely inert with 90--95% remaining intact over eight days, while lignoceric acid was mostly incorporated into complex lipids. This series of studies did not uncover the fundamental genetic defect underlying adrenoleukodystrophy.

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  • Abnormal VLCFA metabolism precedes demyelination in cALD.

    “The authors concluded that abnormal VLCFA metabolism preceded demyelination [163,164] because CE-synthesis enzymes are ten times more active than CE-hydrolysis enzymes [165].”

    From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [165]

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Authors
Ogino, T., Schaumburg, H. H., Suzuki, K., Kishimoto, Y., & Moser, A. E.
Affiliations
  • Albert Einstein College of Medicine (US)
  • Johns Hopkins University (US)
ORCID
Suzuki, Kunihiko
Venue
Advances in Experimental Medicine and Biology
Publisher
Springer US
Published
1978
Volume
100
Pages
601-619
ISSN
0065-2598 (ISSN-L)
DOI
10.1007/978-1-4684-2514-7_44
OpenAlex
W17631890
Cited by
22
References
23
Citations by year
2025: 1 · 2023: 1
FWCI
5.63
Type
book chapter
Language
en
Open access
closed
Locations
  • Advances in experimental medicine and biology (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
  • Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Lipid metabolism and biosynthesis
Keywords
adrenoleukodystrophy, very long chain fatty acids, cholesterol ester hydrolase, gangliosides, cholesterol esters, X-linked disorders, fatty acid uptake
MeSH terms
Biological Transport, Brain, Carboxylic Ester Hydrolases, Cell Line, Sterol Esterase, Demyelinating Diseases, Fatty Acids, Humans, Microsomes, Mitochondria, Myelin Sheath, Stearic Acids

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