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Protease-dependent defects in N-cadherin processing drive PMM2-CDG pathogenesis.

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Congenital disorders of glycosylation (CDG) involve protease defects impacting N-cadherin processing. This study reveals a protease-mediated mechanism causing craniofacial and motility issues in a novel zebrafish model of PMM2-CDG.

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Area of Science:

  • Developmental Biology
  • Biochemistry
  • Genetics

Background:

  • Congenital disorders of glycosylation (CDG) are a growing group of genetic diseases.
  • The precise mechanisms linking glycosylation defects to patient phenotypes are not well understood.

Purpose of the Study:

  • To investigate the pathogenic mechanisms underlying PMM2-CDG using a new zebrafish model.
  • To explore the role of protease activity in CDG-related developmental defects.

Main Methods:

  • Developmental phenotyping and biochemical analyses in a pmm2sa10150 zebrafish mutant model.
  • Matrix-assisted laser desorption ionization mass spectrometry imaging to assess N-glycan occupancy.
  • Cellular analysis of chondrogenesis and N-cadherin processing.

Main Results:

  • Mutant zebrafish embryos exhibited reduced phosphomannomutase activity and altered N-glycan occupancy.
  • Cartilage defects in mutants were linked to impaired N-cadherin proteolytic processing, not N-glycosylation.
  • Proconvertase and matrix metalloproteinase activities were significantly altered in mutants.
  • Pharmacological and genetic interventions targeting proconvertase activity rescued N-cadherin processing and cartilage defects.

Conclusions:

  • Protease dysregulation is a key pathogenic mechanism in PMM2-CDG.
  • Altered protease activity initiates a cascade affecting cell adhesion molecule maturation and tissue development.
  • This study highlights a novel therapeutic target for CDG-related developmental disorders.