[Genetics of XXXX ].

@entity6562 @entity1560 @entity4223 @entity2299 @entity1674 @entity6563 @entity16900 @entity877 @entity74 @entity6864
@entity6563 are @entity74 , leading to the loss of adipose tissue. This loss of adipose tissue can be generalized or partial, thus defining different phenotypes. These @entity6562 have a major metabolic impact, secondary to lipotoxicity. This lipotoxicity is responsible for insulin resistance, @entity2299 and @entity1560 . The severity of the metabolic impact correlates with the severity of the loss of adipose tissue. Mutations in 15 predisposition genes are currently described; @entity16900 and @entity877 genes are the major genes in the generalized forms. On the contrary, @entity4223 and @entity6864 gene mutations are recovered in partial @entity6562 forms. These different genes encode for proteins involved in adipocyte physiology, altering adipocyte differentiation, @entity1674 synthesis and lysis or playing a major role in the lipid droplet formation. @entity6563 treatment is based on the management of metabolic comorbidities but recombinant leptin therapy appears to have promising results. These different points have been recently discussed during the 2015 Endocrine Society Congress, notably by S. O'Rahilly and are highlighted in this review.
