• Sheetal Gandotra, Caroline Le Dour, William Bottomley, Pascale Cervera, Philippe Giral, Yves Reznik, Guillaume Charpentier, Martine Auclair, Marc Delépine, Inês Barroso, Robert K Semple, Mark Lathrop, Olivier Lascols, Jacqueline Capeau, Stephen O'Rahilly, Jocelyne Magré, David B Savage, and Corinne Vigouroux.
• University of Cambridge Metabolic Research Laboratories, Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge, United Kingdom.
• N. Engl. J. Med. 2011 Feb 24; 364 (8): 740748740-8.

AbstractPerilipin is the most abundant adipocyte-specific protein that coats lipid droplets, and it is required for optimal lipid incorporation and release from the droplet. We identified two heterozygous frameshift mutations in the perilipin gene (PLIN1) in three families with partial lipodystrophy, severe dyslipidemia, and insulin-resistant diabetes. Subcutaneous fat from the patients was characterized by smaller-than-normal adipocytes, macrophage infiltration, and fibrosis. In contrast to wild-type perilipin, mutant forms of the protein failed to increase triglyceride accumulation when expressed heterologously in preadipocytes. These findings define a novel dominant form of inherited lipodystrophy and highlight the serious metabolic consequences of a primary defect in the formation of lipid droplets in adipose tissue.

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