KEGG   DISEASE: H00420Help
Entry
H00420                      Disease                                

Name
Familial partial lipodystrophy (FPL), including the following four diseases:
Kobberling-type lipodystrophy (FPLD1);
Dunnigan-type lipodystrophy (FPLD2);
Dunnigan-like lipodystrophy (FPLD3);
AKT2 associated lipodystrophy
Description
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 and AKT2 are regulators of adipocyte differentiation. AKT2 is also involved in postreceptor insulin signaling. Thus, mutations in these two genes could result in lipodystrophy. The reason why loss of fat is restricted to partial areas remains unknown.
Category
Metabolic disease; Skin and connective tissue disease
BRITE hierarchy
Pathway
PPAR signaling pathway
Insulin signaling pathway
Gene
LMNA [HSA:4000] [KO:K12641]
PPARG [HSA:5468] [KO:K08530]
AKT2 [HSA:208] [KO:K04456]
LMNB2 [HSA:84823] [KO:K07611]
Other DBs
Reference
  Authors
Simha V, Garg A
  Title
Inherited lipodystrophies and hypertriglyceridemia.
  Journal
Curr Opin Lipidol 20:300-8 (2009)
Reference
  Authors
Garg A, Agarwal AK
  Title
Lipodystrophies: disorders of adipose tissue biology.
  Journal
Biochim Biophys Acta 1791:507-13 (2009)
Reference
  Authors
Bhayana S, Hegele RA
  Title
The molecular basis of genetic lipodystrophies.
  Journal
Clin Biochem 35:171-7 (2002)
Reference
  Authors
Hegele RA, Cao H, Liu DM, Costain GA, Charlton-Menys V, Rodger NW, Durrington PN
  Title
Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy.
  Journal
Am J Hum Genet 79:383-9 (2006)

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