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

✍ Scribed by Avihu Boneh

• Publisher: John Wiley and Sons
• Year: 1995
• Tongue: English
• Volume: 59
• Category: Article
• ISSN: 0730-2312
• DOI: 10.1002/jcb.240590104

✦ Synopsis

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 pathogensis of other diseases. o 1995 Wiley-Liss, Inc.