The mutant form of lamin A that causes Hutchinson-Gilford progeria is a biomarker of cellular aging in human skin

PLoS One. 2007 Dec 5;2(12):e1269. doi: 10.1371/journal.pone.0001269.

Abstract

Hutchinson-Gilford progeria syndrome (HGPS, OMIM 176670) is a rare disorder characterized by accelerated aging and early death, frequently from stroke or coronary artery disease. 90% of HGPS cases carry the LMNA G608G (GGC>GGT) mutation within exon 11 of LMNA, activating a splice donor site that results in production of a dominant negative form of lamin A protein, denoted progerin. Screening 150 skin biopsies from unaffected individuals (newborn to 97 years) showed that a similar splicing event occurs in vivo at a low level in the skin at all ages. While progerin mRNA remains low, the protein accumulates in the skin with age in a subset of dermal fibroblasts and in a few terminally differentiated keratinocytes. Progerin-positive fibroblasts localize near the basement membrane and in the papillary dermis of young adult skin; however, their numbers increase and their distribution reaches the deep reticular dermis in elderly skin. Our findings demonstrate that progerin expression is a biomarker of normal cellular aging and may potentially be linked to terminal differentiation and senescence in elderly individuals.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Antibodies, Monoclonal / immunology
  • Base Sequence
  • Biomarkers / metabolism*
  • Cellular Senescence / genetics*
  • Child
  • Child, Preschool
  • DNA Primers
  • Humans
  • Infant
  • Infant, Newborn
  • Lamin Type A / genetics
  • Lamin Type A / metabolism*
  • Middle Aged
  • Mutation*
  • Nuclear Proteins / immunology
  • Progeria / genetics*
  • Progeria / metabolism
  • Progeria / pathology
  • Protein Precursors / immunology
  • Skin / pathology*

Substances

  • Antibodies, Monoclonal
  • Biomarkers
  • DNA Primers
  • Lamin Type A
  • Nuclear Proteins
  • Protein Precursors
  • prelamin A