Abstract
Background and Aims: Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by mutations in the gene encoding the low-density lipoprotein receptor (LDLR). The majority of LDLR pathogenic variants are completely or partily retained in the endoplasmatic reticulum (ER). If these variants are not correctly processed for their elimination, the homeostasis of the ER can be altered by a sustained LDLR accumulation. This situation could lead to ER stress, a condition that contribute to hepatic injury. The aim of the present work has been to asses if c.97C>T, c.971delG and c.892delA LDLR variants, previously described in homozygous FH patients, induce ER estress.
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