Laminopathies: the molecular background of the disease and the prospects for its treatment

Cell Mol Biol Lett. 2011 Mar;16(1):114-48. doi: 10.2478/s11658-010-0038-9. Epub 2010 Dec 27.

Abstract

Laminopathies are rare human degenerative disorders with a wide spectrum of clinical phenotypes, associated with defects in the main protein components of the nuclear envelope, mostly in the lamins. They include systemic disorders and tissue-restricted diseases. Scientists have been trying to explain the pathogenesis of laminopathies and find an efficient method for treatment for many years. In this review, we discuss the current state of knowledge about laminopathies, the molecular mechanisms behind the development of particular phenotypes, and the prospects for stem cell and/or gene therapy treatments.

Publication types

  • Review

MeSH terms

  • Genetic Diseases, Inborn / genetics*
  • Genetic Diseases, Inborn / therapy
  • Genetic Therapy
  • Humans
  • Lamins / genetics*
  • Lamins / metabolism
  • Lipodystrophy / therapy
  • Muscular Diseases / therapy
  • Nuclear Envelope / metabolism
  • Progeria / therapy

Substances

  • Lamins