Involvement of prelamin A in laminopathies

Nadir M. Maraldi, Giovanna Lattanzi

Research output: Contribution to journalArticle

Abstract

The precursor protein of the nuclear lamina constituent lamin A is a 74-kDa protein called prelamin A which undergoes subsequent steps of posttranslational modification at its C-terminal CaaX residue. The unexpected finding that accumulation of unprocessable prelamin A is the molecular basis of the most severe laminopathies so far identified, including Hutchinson-Gilford progeria and restrictive dermopathy, has opened new perspectives in the study of the pathogenic mechanisms causing all lamin A/C-linked disorders, as well as new interest in the analysis of molecular mechanisms regulating prelamin A processing. However, complete knowledge of the cellular pathways affected downstream of prelamin A accumulation is still lacking, but it could give new insights both in normal and pathogenic mechanisms regulated by lamins. In this article, we review the involvement of defects of prelamin A processing in the pathogenesis of a group of laminopathies. In particular, we discuss the possibility that mutations leading to accumulation of particular forms of prelamin A result in specific nuclear abnormalities and impairment of nuclear functions leading to cell senescence or altered metabolism.

Original languageEnglish
Pages (from-to)317-334
Number of pages18
JournalCritical Reviews in Eukaryotic Gene Expression
Volume17
Issue number4
Publication statusPublished - 2007

Keywords

  • Chromatin organization
  • Farnesyltransferase inhibitors
  • Lamin A/C
  • Transcriptional regulators

ASJC Scopus subject areas

  • Genetics
  • Molecular Biology

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