A translational view of the genetics of lipodystrophy and ectopic fat deposition

MB Lanktree, CT Johansen, TR Joy… - Progress in Molecular …, 2010 - Elsevier
A wide range of lipodystrophy syndromes exist, each with varying clinical presentations, and
yet cumulatively they underscore the importance of adipocyte biology in human metabolism.
Loss of the ability to retain excess lipids in “classical” adipose tissue stores can lead to the
overdevelopment of ectopic fat stores, often creating severe perturbations of both glucose
and lipid homeostasis. Linkage analysis and candidate sequencing efforts have successfully
identified responsible mutations for multiple forms of lipodystrophy. Recently, the reduction …