Hutchinson-Gilford progeria mutant lamin A primarily targets human vascular cells as detected by an anti-Lamin A G608G antibody

Proc Natl Acad Sci U S A. 2006 Feb 14;103(7):2154-9. doi: 10.1073/pnas.0511133103. Epub 2006 Feb 6.

Abstract

Hutchinson-Gilford progeria syndrome (HGPS; Online Mendelian Inheritance in Man accession no. 176670) is a rare disorder that is characterized by segmental premature aging and death between 7 and 20 years of age from severe premature atherosclerosis. Mutations in the LMNA gene are responsible for this syndrome. Approximately 80% of HGPS cases are caused by a G608 (GGC-->GGT) mutation within exon 11 of LMNA, which elicits a deletion of 50 aa near the C terminus of prelamin A. In this article, we present evidence that the mutant lamin A (progerin) accumulates in the nucleus in a cellular age-dependent manner. In human HGPS fibroblast cultures, we observed, concomitantly to nuclear progerin accumulation, severe nuclear envelope deformations and invaginations preventable by farnesyltransferase inhibition. Nuclear alterations affect cell-cycle progression and cell migration and elicit premature senescence. Strikingly, skin biopsy sections from a subject with HGPS showed that the truncated lamin A accumulates primarily in the nuclei of vascular cells. This finding suggests that accumulation of progerin is directly involved in vascular disease in progeria.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Age Factors
  • Aging, Premature / genetics
  • Antibodies
  • Atherosclerosis / genetics
  • Cell Movement
  • Cell Nucleus / chemistry*
  • Cell Nucleus / metabolism
  • Cell Proliferation
  • Cells, Cultured
  • Endothelial Cells / chemistry
  • Endothelial Cells / metabolism
  • Enzyme Inhibitors / pharmacology
  • Farnesyltranstransferase / antagonists & inhibitors
  • Fibroblasts / chemistry
  • Fibroblasts / metabolism
  • Humans
  • Lamin Type A / analysis*
  • Lamin Type A / genetics*
  • Lamin Type A / metabolism
  • Mutation
  • Progeria / genetics
  • Progeria / metabolism*
  • Progeria / pathology
  • Skin / pathology

Substances

  • Antibodies
  • Enzyme Inhibitors
  • Lamin Type A
  • Farnesyltranstransferase