Cytoplasmic localization of PML particles in laminopathies

F. Houben, W. H. De Vos, I. P. C. Krapels, M. Coorens, G. J. J. Kierkels, M. A. F. Kamps, V. L. R. M. Verstraeten, C. L. M. Marcelis, A. van den Wijngaard, F. C. S. Ramaekers, J. L. V. Broers*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

17 Citations (Web of Science)


There is growing evidence that laminopathies, diseases associated with mutations in the LMNA gene, are caused by a combination of mechanical and gene regulatory distortions. Strikingly, there is a large variability in disease symptoms between individual patients carrying an identical LMNA mutation. This is why classical genetic screens for mutations appear to have limited predictive value for disease development. Recently, the widespread occurrence of repetitive nuclear ruptures has been described in fibroblast cultures from various laminopathy patients. Since this phenomenon was strongly correlated with disease severity, the identification of biomarkers that report on these rupture events could have diagnostic relevance. One such candidate marker is the PML nuclear body, a structure that is normally confined to the nuclear interior, but leaks out of the nucleus upon nuclear rupture. Here, we show that a variety of laminopathies shows the presence of these cytoplasmic PML particles (PML CPs), and that the amount of these protein aggregates increases with severity of the disease. In addition, between clinically healthy individuals, carrying LMNA mutations, significant differences can be found. Therefore, we postulate that detection of PML CPs in patient fibroblasts could become a valuable marker for diagnosis of disease development.
Original languageEnglish
Pages (from-to)119-134
JournalHistochemistry and Cell Biology
Issue number1
Publication statusPublished - Jan 2013


  • Lamins
  • PML nuclear bodies
  • Immunofluorescence
  • Nuclear rupture
  • Dermal fibroblasts

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