Cell immortalization facilitates prelamin A clearance by increasing both cell proliferation and autophagic flux.

ABSTRACT: Hutchinson-Gilford Progeria Syndrome is an ultrarare disease which is characterized by an accelerated senescence phenotype with deleterious consequences to people suffering this pathology. The production of an abnormal protein derived from lamin A, called progerin, presents a farnesylated domain, which is not eliminated by the causal mutation of the disease, and accumulates in the interior of the nucleus, provoking a disruption of nuclear membrane, chromatin organization and an altered gene expression. The mutation in these patients occurs in a single nucleotide change, which creates a de novo splicing site, producing a shorter version of the protein. Apart from this mutation, an alteration in the metalloproteinase Zmpste24, involved in the maturation of lamin A, causing a similar alterati

SUBMITTER: Gonzalez-Blanco C 

PROVIDER: S-EPMC8954962 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature