Perilipin deficiency and autosomal dominant partial lipodystrophy.
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ABSTRACT:
SUBMITTER: Gandotra S
PROVIDER: S-EPMC3773916 | biostudies-literature | 2011 Feb
REPOSITORIES: biostudies-literature
Publications
Perilipin deficiency and autosomal dominant partial lipodystrophy.
Gandotra Sheetal S Le Dour Caroline C Bottomley William W Cervera Pascale P Giral Philippe P Reznik Yves Y Charpentier Guillaume G Auclair Martine M Delépine Marc M Barroso Inês I Semple Robert K RK Lathrop Mark M Lascols Olivier O Capeau Jacqueline J O'Rahilly Stephen S Magré Jocelyne J Savage David B DB Vigouroux Corinne C
The New England journal of medicine 20110201 8
Perilipin 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 p ...[more]
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