Epigenetic involvement in Hutchinson-Gilford progeria syndrome: a mini-review

Gerontology. 2014;60(3):197-203. doi: 10.1159/000357206. Epub 2014 Feb 28.

Abstract

Hutchinson-Gilford progeria syndrome (HGPS) is a rare human genetic disease that leads to a severe premature ageing phenotype, caused by mutations in the LMNA gene. The LMNA gene codes for lamin-A and lamin-C proteins, which are structural components of the nuclear lamina. HGPS is usually caused by a de novo C1824T mutation that leads to the accumulation of a dominant negative form of lamin-A called progerin. Progerin also accumulates physiologically in normal ageing cells as a rare splicing form of lamin-A transcripts. From this perspective, HGPS cells seem to be good candidates for the study of the physiological mechanisms of ageing. Progerin accumulation leads to faster cellular senescence, stem cell depletion and the progeroid phenotype. Tissues of mesodermic origin are especially affected by HGPS. HGPS patients usually have a bad quality of life and, with current treatments, their life expectancy does not exceed their second decade at best. Though progerin can be expressed in almost any tissue, when death occurs, it is usually due to cardiovascular complications. In HGPS, severe epigenetic alterations have been reported. Histone-covalent modifications are radically different from control specimens, with the tendency to lose the bipartition into euchromatin and heterochromatin. This is reflected in an altered spatial compartmentalization and conformation of chromatin within the nucleus. Moreover, it seems that microRNAs and microRNA biosynthesis might play a role in HGPS. Exemplary in this connection is the suggested protective effect of miR-9 on the central nervous system of affected individuals. This mini-review will report on the state of the art of HGPS epigenetics, and there will be a discussion of how epigenetic alterations in HGPS cells can alter the cellular metabolism and lead to the systemic syndrome.

Publication types

  • Review

MeSH terms

  • Adenosine Triphosphate / metabolism
  • Aging / genetics
  • Aging / metabolism
  • Cell Nucleus / genetics
  • Cell Nucleus / metabolism
  • Child
  • Chromatin Assembly and Disassembly
  • DNA Methylation
  • Epigenesis, Genetic*
  • Histones / genetics
  • Histones / metabolism
  • Humans
  • Lamin Type A / genetics
  • Lamin Type A / metabolism
  • Mi-2 Nucleosome Remodeling and Deacetylase Complex / metabolism
  • MicroRNAs / genetics
  • MicroRNAs / metabolism
  • Mutation
  • Nuclear Proteins / genetics
  • Nuclear Proteins / metabolism
  • Progeria / genetics*
  • Progeria / metabolism
  • Protein Precursors / genetics
  • Protein Precursors / metabolism

Substances

  • Histones
  • LMNA protein, human
  • Lamin Type A
  • MicroRNAs
  • Nuclear Proteins
  • Protein Precursors
  • prelamin A
  • Adenosine Triphosphate
  • Mi-2 Nucleosome Remodeling and Deacetylase Complex