Lipodystrophic laminopathies: Diagnostic clues

Nucleus. 2018 Jan 1;9(1):249-260. doi: 10.1080/19491034.2018.1454167.


The nuclear lamina is a complex reticular structure that covers the inner face of the nucleus membrane in metazoan cells. It is mainly formed by intermediate filaments called lamins, and exerts essential functions to maintain the cellular viability. Lamin A/C provides mechanical steadiness to the nucleus and regulates genetic machinery. Laminopathies are tissue-specific or systemic disorders caused by variants in LMNA gene (primary laminopathies) or in other genes encoding proteins which are playing some role in prelamin A maturation or in lamin A/C function (secondary laminopathies). Those disorders in which adipose tissue is affected are called laminopathic lipodystrophies and include type 2 familial partial lipodystrophy and certain premature aging syndromes. This work summarizes the main clinical features of these syndromes, their associated comorbidities and the clues for the differential diagnosis with other lipodystrophic disorders.

Keywords: LMNA; diagnosis; laminopathies; progeria; type 2 familial partial lipodystrophy.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adipose Tissue / metabolism
  • Adipose Tissue / pathology
  • Animals
  • Cell Nucleus / metabolism
  • Cell Nucleus / pathology
  • Humans
  • Lipodystrophy / diagnosis*
  • Lipodystrophy / metabolism
  • Nuclear Lamina / metabolism
  • Nuclear Lamina / pathology*

Grants and funding

This study has been funded by the Instituto de Salud Carlos III (grant number: PI081449) and the European Regional Development Fund, FEDER and by the Asociación Española de Familiares y Afectados de Lipodistrofias (AELIP).