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ACE phenotyping in Gaucher disease.

Sergei M Danilov1, Victoria E Tikhomirova2, Roman Metzger3

  • 1Department of Anesthesiology, University of Illinois at Chicago, IL, USA; Department of Medicine, University of Arizona, Tucson, AZ, USA.

Molecular Genetics and Metabolism
|February 27, 2018
PubMed
Summary
This summary is machine-generated.

In Gaucher disease, elevated angiotensin-converting enzyme (ACE) originates from activated macrophages. ACE conformation and kinetics differ in Gaucher disease, offering potential diagnostic biomarkers.

Keywords:
ACE inhibitorsAngiotensin I-converting enzymeCD143ConformationGaucher diseaseMonoclonal antibodiesTissue specificity

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Area of Science:

  • Biochemistry
  • Immunology
  • Pathology

Background:

  • Gaucher disease involves activated splenic and hepatic macrophages.
  • Elevated angiotensin-converting enzyme (ACE) levels are a hallmark of Gaucher disease.
  • The source of increased blood ACE in Gaucher disease requires investigation.

Purpose of the Study:

  • To identify the source of elevated blood ACE in Gaucher disease.
  • To compare ACE characteristics between Gaucher disease patients and controls.
  • To explore potential ACE-based biomarkers for Gaucher disease.

Main Methods:

  • Performed ACE phenotyping on blood, spleen, and liver samples.
  • Utilized immunohistochemistry, enzyme activity assays (HHL, ZPHL), and epitope binding analysis.
  • Assessed ACE conformation and kinetic properties (ZPHL/HHL ratio).

Main Results:

  • Elevated ACE in Gaucher disease originates from activated splenic and/or hepatic macrophages (Gaucher cells).
  • ACE from Gaucher cells exhibits distinct conformational and kinetic profiles compared to controls and sarcoidosis.
  • Gaucher spleen is deficient in endogenous ACE inhibitors and a novel ACE effector.

Conclusions:

  • ACE conformation is tissue-specific and altered in Gaucher disease.
  • Differences in ACE glycosylation or sialylation likely cause conformational changes.
  • Conformational variations in ACE may serve as a specific biomarker for Gaucher disease.