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Altered mononuclear phagocyte differentiation associated with genetic defects of the lysosomal acid lipase.

Abstract
Multiparameter flow cytometry reveals a complex heterogeneity of mononuclear phagocyte differentiation within the peripheral blood compartment. In this study, the relation of abnormal cellular lipid metabolism to the phenotype of peripheral blood mononuclear phagocytes, which finally may be related to atherogenesis, was analyzed using recently characterized autosomal recessive defects of lysosomal acid lipase (LAL) expression as model system. The reduction of LAL activity in nine heterozygote, disease free carriers of mutations from two cholesteryl ester storage disease (CESD) pedigrees and the family of a patient with Wolman disease was associated with an increased fraction of monocytes which expressed CD56 (N-CAM) (4.1 +/- 2.7% of monocytes, compared to 2.2 +/- 0.5% in ten controls, P < 0.05), an antigen characteristic of immature myeloid cells, suggesting an increased turnover of monocytes. Furthermore, a trend was observed towards an enhanced blood pool of more mature mononuclear phagocytes which show decreased expression of the 55 kD lipopolysaccharide receptor (CD14) together with either expression of the Fc-gamma-receptor III (CD16) or a high expression of CD33. A similar phenotype of peripheral mononuclear phagocytes was observed in the two CESD patients analyzed. In conclusion, our data suggest that these monogenetic defects of lysosomal lipoprotein metabolism are associated with complex alterations of mononuclear phagocyte differentiation and extravasation.
AuthorsG Rothe, J Stöhr, P Fehringer, C Gasche, G Schmitz
JournalAtherosclerosis (Atherosclerosis) Vol. 130 Issue 1-2 Pg. 215-21 (Apr 1997) ISSN: 0021-9150 [Print] Ireland
PMID9126667 (Publication Type: Journal Article)
Chemical References
  • Antigens, Differentiation
  • CD56 Antigen
  • Lipopolysaccharide Receptors
  • Receptors, IgG
  • Sterol Esterase
Topics
  • Adolescent
  • Adult
  • Alleles
  • Antigens, Differentiation (analysis)
  • CD56 Antigen (analysis)
  • Child
  • Child, Preschool
  • Cholesterol Ester Storage Disease (enzymology, genetics, immunology)
  • Flow Cytometry
  • Humans
  • Lipopolysaccharide Receptors (analysis)
  • Middle Aged
  • Monocytes (immunology)
  • Pedigree
  • Phagocytes (immunology)
  • Phenotype
  • Point Mutation
  • Receptors, IgG (analysis)
  • Sterol Esterase (genetics)
  • Wolman Disease (enzymology, genetics, immunology)

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