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Functional characterization of PCCA mutations causing propionic acidemia.

Sonia Clavero1, Maria Angeles Martínez, Belén Pérez

  • 1Dpto. Biología Molecular, Centro de Biología Molecular Severo Ochoa, CSIC-UAM, Universidad Autónoma de Madrid, Campus de Cantoblanco, 28049 Madrid, Spain.

Biochimica Et Biophysica Acta
|October 19, 2002
PubMed
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Propionic acidemia (PA) results from PCCA gene mutations affecting propionyl-CoA carboxylase (PCC). This study confirms pathogenicity of 11 PCCA mutations, revealing they destabilize the PCC enzyme, leading to functional deficiency.

Area of Science:

  • Biochemistry
  • Genetics
  • Metabolic Disorders

Background:

  • Propionic acidemia (PA) is a genetic disorder caused by deficiencies in propionyl-CoA carboxylase (PCC).
  • The PCCA gene encodes the alpha subunit of PCC, and mutations in PCCA are a known cause of PA.
  • The precise molecular impact of many PCCA mutations remains unclear.

Purpose of the Study:

  • To establish the pathogenicity of 11 novel PCCA mutations (10 missense, 1 in-frame deletion).
  • To investigate the effects of these mutations on PCC activity, protein stability, and domain structure.
  • To correlate molecular findings with genotype-phenotype relationships in PA patients.

Main Methods:

  • Expression studies in PCCA-deficient patient fibroblasts.
  • Cell-free in vitro system for analyzing PCC activity and protein stability.

Related Experiment Videos

  • Analysis of mutant protein turnover and domain structure.

    • Main Results:

    • Pathogenicity of 11 PCCA mutations was confirmed through functional studies.
    • Most mutant PCC proteins exhibited increased turnover and functional deficiency.
    • Structural alterations caused by mutations were incompatible with stable, functional PCC oligomer assembly.

    Conclusions:

    • The study elucidates the molecular mechanisms underlying PCCA mutations in PA.
    • Identified mutations lead to unstable and functionally deficient PCC enzymes.
    • Findings contribute to understanding genotype-phenotype correlations in PCCA-deficient PA.