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Peroxisomal. beta. -oxidation enzyme proteins in adrenoleukodystrophy: distinction between x-linked adrenoleukodystrophy and neonatal adrenoleukodystrophy

Journal Article · · Proc. Natl. Acad. Sci. U.S.A.; (United States)
; ; ; ;
Very long chain fatty acids, which accumulate in plasma and tissues in x-linked adrenoleukodystrophy (ALD), neonatal ALD, and the Zellweger cerebrohepatorenal syndrome, are degraded by the peroxisomal ..beta..-oxidation pathway, consisting of acyl-CoA oxidase, the bifunctional enoyl-CoA hydratase/3-hydroxyacyl-CoA dehydrogenase, and ..beta..-ketothiolase. A marked deficiency of all three enzyme proteins was reported in livers from patients with the Zellweger syndrome, a disorder in which peroxisomes are decreased or absent. Peroxisomes are not as markedly decreased in neonatal ALD and appear normal in x-linked ALD. Immunoblot analysis of the peroxisomal ..beta..-oxidation enzymes revealed an almost complete lack of the bifunctional enzymes in neonatal ALD liver, similar to the finding in Zellweger tissues. In contrast, acyl-CoA oxidase and ..beta..-ketothiolase were present in neonatal ALD liver, although the thiolase appeared to be in precursor form (2-3 kDa larger than the mature enzyme) in neonatal ALD. Unlike either neonatal ALD or Zellweger syndrome, all three peroxisomal ..beta..-oxidation enzymes were present in x-linked ALD liver. Despite the absence in neonatal ALD liver of bifunctional enzyme protein, its mRNA was detected by RNA blot analysis in fibroblasts from these patients. These observations suggest that lack of bifunctional enzyme protein in neonatal ALD results from either abnormal translation of the mRNA or degradation of the enzyme prior to its entry into peroxisomes.
Research Organization:
Johns Hopkins Univ. School of Medicine, Baltimore, MD
OSTI ID:
6125742
Journal Information:
Proc. Natl. Acad. Sci. U.S.A.; (United States), Journal Name: Proc. Natl. Acad. Sci. U.S.A.; (United States) Vol. 84:5; ISSN PNASA
Country of Publication:
United States
Language:
English

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550201* -- Biochemistry-- Tracer Techniques
59 BASIC BIOLOGICAL SCIENCES
AGE GROUPS
ALKALI METAL COMPOUNDS
ANTIGEN-ANTIBODY REACTIONS
BETA DECAY RADIOISOTOPES
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BIODEGRADATION
BIOLOGICAL PATHWAYS
BODY
CATALASE
CHEMICAL REACTIONS
CHILDREN
CHROMOSOMES
DAYS LIVING RADIOISOTOPES
DECOMPOSITION
DIGESTIVE SYSTEM
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DNA
ELECTRON CAPTURE RADIOISOTOPES
ENZYMES
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HALIDES
HALOGEN COMPOUNDS
HEREDITARY DISEASES
HETEROCHROMOSOMES
HYBRIDIZATION
INFANTS
INORGANIC PHOSPHORS
INTERMEDIATE MASS NUCLEI
IODIDES
IODINE 125
IODINE COMPOUNDS
IODINE ISOTOPES
ISOTOPES
LABELLED COMPOUNDS
LIGHT NUCLEI
LIVER
MESSENGER-RNA
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NUCLEIC ACIDS
ODD-EVEN NUCLEI
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ORGANIC COMPOUNDS
ORGANS
OXIDOREDUCTASES
PATIENTS
PEROXIDASES
PHOSPHORS
PHOSPHORUS 32
PHOSPHORUS ISOTOPES
RADIOISOTOPES
RECOMBINANT DNA
RNA
SODIUM COMPOUNDS
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X CHROMOSOME