Possible role for protein kinase C in the pathogenesis of inborn errors of metabolism.

Abstract

Protein kinase C (PKC) is a ubiquitous enzyme family implicated in the regulation of a large number of short- and long-term intracellular processes. It is hypothesized that modulation of PKC activity may represent, at least in part, a functional link between mutations (genotype) that lead to the pathological accumulation of naturally occurring compounds that affect PKC activity and perturbation of PKC-mediated substrate phosphorylation and cellular function in the corresponding diseases (phenotype). This model provides a unifying putative mechanism by which the phenotypic expression of some inborn errors of metabolism may be explained. Recent studies in a cell-free system of human skin fibroblasts support the hypothesis that alteration of PKC activity may represent the functional link between accumulation of sphingolipids and fatty acyl-CoA esters, and perturbation of cell function in sphingolipidoses and fatty acid oxidation defects, respectively. Further studies will elucidate the effects of these alterations on PKC-mediated short- and long-term cellular functions in these diseases, as well as the possible role of PKC in the pathogenesis of other diseases.

• Authors: A Boneh
• Journal: Journal of cellular biochemistry (J Cell Biochem) Vol. 59 Issue 1 Pg. 27-32 (Sep 1995) ISSN: 0730-2312 [Print] United States
• PMID: 8530533 (Publication Type: Journal Article, Review)

Chemical References

• Fatty Acids
• Sphingolipids
• Protein Kinase C

Topics

• Fatty Acids (metabolism)
• Humans
• Lipid Metabolism, Inborn Errors (enzymology)
• Oxidation-Reduction
• Protein Kinase C (metabolism)
• Sphingolipids (metabolism)