Familial partial lipodystrophy

Definition:

Familial partial lipodystrophy (FPL) is a rare autosomal dominant disorder characterized by variable loss of body fat from the extremities as well as from the truncal region. LMNA, PPARG and AKT2 have been identified in association with FPL. However, it is not yet known how these genes cause the disorder. Besides them, additional loci are likely as many FPL patients do not reveal any mutations in these genes. LMNA mutations may affect nuclear function, and may be involved in apoptosis and premature cell death of adipocytes, thus causing lipodystrophy. PPARG, PLIN1, and AKT2 are regulators of adipocyte differentiation. AKT2 is also involved in postreceptor insulin signaling. Thus, mutations in these three genes could result in lipodystrophy. The reason why loss of fat is restricted to partial areas remains unknown. Recently, novel autosomal recessive causes of partial lipodystrophy were reported.

References:

[1]. Abhimanyu Garg, et al. Lipodystrophies: disorders of adipose tissue biology. Biochim Biophys Acta. 2009 Jun;1791(6):507-13. [Content Brief]

[2]. H Cao, et al. Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy. Hum Mol Genet. 2000 Jan 1;9(1):109-12. [Content Brief]

[3]. Henian Cao, et al. Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia. Lipids Health Dis. 2008 Jan 31;7:3. [Content Brief]

[4]. I Barroso, et al. Dominant negative mutations in human PPARgamma associated with severe insulin resistance, diabetes mellitus and hypertension. Nature. 1999 Dec;402(6764):880-3. [Content Brief]

[5]. Jessica S Albert, et al. Null mutation in hormone-sensitive lipase gene and risk of type 2 diabetes. N Engl J Med. 2014 Jun 12;370(24):2307-2315. [Content Brief]

[6]. Oscar Rubio-Cabezas, et al. Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC. EMBO Mol Med. 2009 Aug;1(5):280-7. [Content Brief]

[7]. Robert A Hegele, et al. Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy. Am J Hum Genet. 2006 Aug;79(2):383-9. [Content Brief]

[8]. Robert K Semple, et al. Postreceptor insulin resistance contributes to human dyslipidemia and hepatic steatosis. J Clin Invest. 2009 Feb;119(2):315-22. [Content Brief]

[9]. Sheetal Gandotra, et al. Perilipin deficiency and autosomal dominant partial lipodystrophy. N Engl J Med. 2011 Feb 24;364(8):740-8. [Content Brief]

[10]. Shelly Bhayana, et al. The molecular basis of genetic lipodystrophies. Clin Biochem. 2002 May;35(3):171-7. [Content Brief]

[11]. Vinaya Simha, et al. Inherited lipodystrophies and hypertriglyceridemia. Curr Opin Lipidol. 2009 Aug;20(4):300-8. [Content Brief]

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