Back to Search
Start Over
Perilipin deficiency and autosomal dominant partial lipodystrophy.
- Source :
-
The New England journal of medicine [N Engl J Med] 2011 Feb 24; Vol. 364 (8), pp. 740-8. - Publication Year :
- 2011
-
Abstract
- 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 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.
- Subjects :
- Acanthosis Nigricans genetics
Adult
Carrier Proteins
Female
Genes, Dominant
Heterozygote
Humans
Insulin Resistance genetics
Middle Aged
Pedigree
Perilipin-1
Diabetes Mellitus, Type 1 genetics
Frameshift Mutation
Hypertriglyceridemia genetics
Lipodystrophy, Familial Partial genetics
Phosphoproteins deficiency
Phosphoproteins genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1533-4406
- Volume :
- 364
- Issue :
- 8
- Database :
- MEDLINE
- Journal :
- The New England journal of medicine
- Publication Type :
- Academic Journal
- Accession number :
- 21345103
- Full Text :
- https://doi.org/10.1056/NEJMoa1007487