Aspectes metabòlics i paper de l'agregat genètic AL-CIII-AIV en la hiperlipèmia familiar combinada

Identificador:  TDX:515

Handle: https://hdl.handle.net/20.500.11797/TDX515

Autors:  Ribalta Vives, Josep

Resum:
Familial combined hyperlipidemia (FCHL) is the commonest genetic form of hyperlipidemia among survivors of acute myocardial infarction. The metabolic and genetic bases of this disorder are currently unknown. In the present study we aimed to explore the potential role of alterations in the sequence and regulation of the AI-CIII-AIV gene cluster in relation to FCHL. We have therefore studied two polymorphisms in this region in relation to the lipid profile of patients diagnosed of FCHL (n=16) and their relatives (n=106). We have also measured plasma vitamin A concentrations as an indicator of potential alterations in the mechanisms regulating the expression of this gene cluster which are retinoic acid dependant.The results indicate that polymorphisms in the AI-CIII-AIV gene cluster are strongly associated with elevations in plasma triglyceride concentrations and most parameters related to triglyceride metabolism. This effect is observed only among FCHL subjects indicating that variations in this region may act as a predisposing factor to develop hyperlipidemia. Also these patients present with significantly lower concentrations of plasma retinol and, therefore, alterations in the mechanisms regulating gene expression depending on retinoic acid should not be ruled out as part of the etiology of FCHL.