Signal transduction in inherited metabolic disorders: a model for a possible pathogenetic mechanism

Journal of Inherited Metabolic Disease
Avihu Boneh

Abstract

Signal transduction is the process by which external or internal signals exert their intracellular biological effects and by which intracellular communication is regulated. An important component of the signalling pathway is the second messenger, which is produced upon stimulation of the cell and mediates its effects downstream through phosphorylation and dephosphorylation of target proteins. Intracellular accumulation or deficiency of metabolites that serve as second messengers, due to inborn errors of their metabolism, may lead to perturbation of signalling pathways and disruption of the balance between them, serving as a missing link between the genotype, biochemical phenotype and clinical phenotype. The main second messengers that are putatively associated with the pathogenesis of IEM are 'bioactive lipids' (complex lipids and long-chain fatty acids), 'calcium', 'stress' (osmotic, reactive oxygen/nitorgen species, misfolded proteins and others) and 'metabolic' (AMP/ATP ratio, leucine, glutamine). They act through protein kinase C, calcium dependent kinases (CamK) and phosphatase (CN), 'stress-mediated' kinases (MAPK) and AMP/ATP-dependent kinase (AMPK). These signalling pathways lead to cell proliferation, inflammatory resp...Continue Reading

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