Network analysis approach to find new candidate genes and pathways involved in the pathophysiology of familial hypercholesterolemia

Rossi, Niccolò; Bourbon, Mafalda

http://hdl.handle.net/10400.18/3979

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Authors

Rossi, Niccolò

Bourbon, Mafalda

Abstract(s)

Still a big gap exists between clinical and genetic diagnosis of dyslipidemic disorders. Almost the 60% of the patients with a clinical diagnosis of Familial hypercholesterolemia (FH) still lack of a genetic diagnosis. Here we present the preliminary results of an integrative approach intended to identify new candidate genes and to dissect pathways that can be dysregulated in the disease. Interesting hits will be subsequently knocked down in vitro in order to evaluate their functional role in the uptake of fluorescently-labeled LDL and free cell cholesterol using automated microscopy.