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Laboratorio di ricerca

Lab. nameMolecular pathology of inherited dyslipidemias. 
Principal Investigator Patrizia Tarugi 
ComponentsPatrizia Tarugi  (Principal Investigator - Professore Ordinario )
Maria Luisa Simone  (Collaboratore - Personale tecnico-amministrativo )
DescriptionOver the last two decades the laboratory has focused on the molecular and genetic bases of inherited disorders of plasma lipoproteins in humans (dyslipidemias). These disorders are due to alterations of the metabolism of different lipoprotein classes that are collectively designated apoB-containing lipoproteins (LpBs) (VLDL, LDL and Chylomicrons); they include Familial Hypercholesterolemia (FH), Familial Hypobetalipoproteinemia (FHBL), Abetalipoproteinemia (ABL) and monogenic hypertriglyceridemias (HTGs). The laboratory is involved in the investigation of these dyslipidemias with regard to: i) assembly, secretion and catabolism of LpBs, and the organ damage induced by the accumulation or the deficiency of these lipoproteins in the blood; ii) genetic and molecular mechanisms underlying the metabolic changes of LpBs; iii) the search for new candidate genes in those patients in whom mutations in the known candidate genes have been ruled out (Orphan disorders). These studies are conducted within a framework of national and international collaboration involving various Lipids Clinics which identify suitable patients and their families. The general objective of the study is to define genotype-phenotype correlations and set the stage for a personalized treatment of these patients.  
Addressvia Giuseppe Campi, 287 - 41125 Modena 
KeywordsMonogenic dyslipidemias; Mutation detection, Candidate genes, Pathophysiology 
ERC Sectors LS2_6 Molecular genetics, reverse genetics and RNAi LS4_5 Metabolism, biological basis of metabolism related disorders LS7_2 Diagnostic tools (e.g. genetic, imaging)  
InstrumentationTyphoon TRIO Workstation and related softwares for image detection (GE Healthcare Europe) Fast Protein Liquid Chromatography (BIORAD) Thermal Cyclers FORMA Orbital shaker TJ-25 Centrifuge Multifuge 3 S-R 
Research Lines Translational Medicine

Methodologies Separation of plasma lipoproteins (ultracentrifugation, FPLC); Sequencing of candidate genes; Cloning of cDNA into expression vectors; Isolation and characterization of apolipoproteins; In vitro synthesis and secretion of lipoproteins; Cell culture;; In situ-mutagenesis; Plasmid transfection; Expression of apolipoprotein mutants (Immunoprecipitation, Western Blotting); Immunolocalization by confocal microscopy.