Humpath.com - Human pathology

Home > D. General pathology > Genetic and developmental anomalies > Dunnigan-type familial partial lipodystrophy

Dunnigan-type familial partial lipodystrophy

Monday 17 November 2003

Lipodystrophy is characterized by altered partition of adipose tissue. Despite heterogeneous causes, which include genetic, autoimmune and drug-induced forms, lipodystrophy syndromes have similar metabolic attributes, including insulin resistance, hyperlipidemia and diabetes. The mechanisms underlying the insulin resistance are unknown.

One form of lipodystrophy, namely Dunnigan-type familial partial lipodystrophy (FPLD) was shown to result from mutations in the LMNA gene, which encodes nuclear lamins A and C.

Although the relationship between the mutations in the nuclear envelope and insulin resistance is unclear at present, these findings might eventually be shown to have relevance for the common insulin resistance syndrome and for drug-associated lipodystrophies.

Etiology

- mutation in LMNA-encoding lamin-A/C

References

- Hegele RA. Molecular basis of partial lipodystrophy and prospects for therapy. Trends Mol Med. 2001 Mar;7(3):121-6. PMID: 11286783