Inhibition of the 3 ‐hydroxy‐3‐methyl‐glutaryl‐CoA reductase induces orofacial defects in zebrafish

ConclusionOur results suggest that HMGCR loss‐of‐function primarily affects postmigratory cranial neural crest cells through abnormal Sonic Hedgehog signaling, probably induced by reduction in metabolites of the cholesterol pathway. Malformation severity correlates with the grade of HMGCR inhibition, developmental stage of its disruption, and probably with availability of maternal lipids. Together, our results might help to understand the spectrum of orofacial phenotypes found in cholesterol synthesis disorders. Birth Defects Research (Part A), 2016. © 2016 Wiley Periodicals, Inc.

Source: Birth Defects Research Part A: Clinical and Molecular Teratology - June 30, 2016 Category: Perinatology & Neonatology Authors: Iskra A. Signore, Carolina Jerez, Diego Figueroa, Jos é Suazo, Katherine Marcelain, Oscar Cerda, Alicia Colombo Flores Tags: Original Research Source Type: research