Symposium 1: Primary and secondary lipodystrophy
DOI:
https://doi.org/10.47196/diab.v54i3Sup.315Keywords:
lipodystrophy, characteristicsAbstract
Symposium 1: When diabetes is not autoimune
Primary and secondary lipodystrophy
Lipodystrophy is a complex disease, which can be either congenital or acquired, characterized by the loss of subcutaneous fat, total or partial, with the increase of visceral fat. There are multiple molecular forms found; the first ones described are type 1 and type 2 congenital generalized lipodystrophy syndrome. Several patients exhibit molecular forms that have yet to be described. Type 1 has been found in chromosome 9q34 and it is the mutation of 1-acylglycerol-3-phosphate O-acyltransferase (AGPAT2) that catalyzes acetylation reaction during phospholipid and triglycerides synthesis, especially at a subcutaneous adipose tissue level. Type 2 is a mutation in the seipin gene, which encodes a protein of a still unknown function. That is the reason why the mechanisms by which lipodystrophy is unchained are also still unknown. It is located in chromosome 11q13.
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