Molecular Genetics of the Pi3k-Akt-Mtor Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities Publisher Pubmed



Vahidnezhad H^{1, 2} ; Youssefian L^{1, 3} ; Uitto J¹
Source: Journal of Investigative Dermatology Published:2016

Abstract

A number of critical signaling pathways are required for homeostatic regulation of cell survival, differentiation, and proliferation during organogenesis. One of them is the PI3K-AKT-mTOR pathway consisting of a cascade of inhibitor/activator molecules. Recently, a number of heritable diseases with skin involvement, manifesting particularly with tissue overgrowth, have been shown to result from mutations in the genes in the PI3K-AKT-mTOR and interacting intracellular pathways. Many of these conditions represent an overlapping spectrum of phenotypic manifestations forming a basis for novel, unifying classifications. Identification of the mutant genes and specific mutations in these patients has implications for diagnostics and genetic counseling and provides a rational basis for the development of novel treatment modalities for this currently intractable group of disorders. © 2015 The Authors. Published by Elsevier.