Molecular mechanisms controlling human adipose tissue development: insights from monogenic lipodystrophies

Justin J. Rochford*

*Corresponding author for this work

Research output: Contribution to journalLiterature reviewpeer-review

19 Citations (Scopus)


Appropriately functioning adipose tissue is essential for human health, a fact most clearly illustrated by individuals with lipodystrophy, who have impaired adipose development and often suffer severe metabolic disease as a result. Humans with obesity display a similar array of metabolic problems. This reflects failures in fat tissue function in obesity, which results in consequences similar to those seen when insufficient adipose tissue is present. Thus a better understanding of the molecules that regulate the development of fat tissue is likely to aid the generation of novel therapeutic strategies for the treatment of all disorders of altered fat mass. Single gene disruptions causing lipodystrophy can give unique insights into the importance of the proteins they encode in human adipose tissue development. Moreover, the mechanisms via which they cause lipodystrophy can reveal new molecules and pathways important for adipose tissue development and function as well as confirming the importance of molecules identified from studies of cellular and animal models.

Original languageEnglish
Article numbere24
Number of pages20
JournalExpert Reviews in Molecular Medicine
Publication statusPublished - 2 Aug 2010


  • seip congenital lipodystrophy
  • AKT/protein-kinase-B
  • familial partial lipodystrophy
  • lipid-droplet formation
  • fat-specific protein-27
  • phosphoenolpyruvate carboxykinase gene
  • isoform-specific regulation
  • acid acyltransferase-beta
  • causes insulin-resistance
  • diet-induced obesity


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