Full Professor of Clinical Biochemistry and Clinical Molecular Biology (SSD: BIO/12)
Department of Molecular Medicine and Medical Biotechnologies University of Naples Federico II
1981: Degree in Medicine and Surgery with summa cum laude
1981-1985: Post-doctoral fellow, Department of Biochemistry and Medical Biotechnologies, University of Napoli Federico II
1985: Clinical Biology postgraduate degree, summa cum laude
1985-2000 Research Assistant of Clinical Biochemistry Department of Biochemistry and Medical University of Naples, Federico II;
1992 Post-doctoral fellow at the Department of Chemical Pathology Hammersmith Hospital London, UK (Director Prof.D.W.Moss);
2001-2006 Associate Professor of Clinical Biochemistry Department of Biochemistry and Medical University of Naples, Federico II;
to date Director of the “Clinical biochemistry and emergency laboratory” service sector of the Azienda Ospedaliera Universitaria Federico II;
2007 to date Full Professor of Clinical Biochemistry and Clinical Molecular Biology (SSD: BIO/12) University of Naples, Federico II.
Familial dyslipidemias and in particular Familial Hypercholesterolemia, the most common inherited monogenic disease, had as most relevant clinical complication the premature development of atherosclerotic plaques, which in turn, may lead to early cardiovascular events. The research is focused on the molecular basis of the above diseases in order to identify additional mechanisms that should be taken into account for patient management to prevent future cardiovascular complications.
- Study of molecular bases and genotype-phenotype correlation of familial dyslipidemias such as Familial Hypercholesterolemia (FH), Severe Hypertriglyceridemia (HTG), Familial Combined Hyperlipidemia (FCH) and Cerebrotendinous Xanthomatosis (CTX). The FH is the most common inherited monogenic disease and in around 20% of FH patients the genetic cause has not been identified; the current research on the identification of new genes indicates the complexity of FH genetics suggesting a polygenic hypothesis and the need to search for other molecular mechanisms. The research is now focused on the identification of additional mechanisms including regulation of expression due to abnormal presence/sequence of regulatory miRNAs.
- Study of functional effects of new variants and of variants of unknown significance in LDLR and PCSK9 genes by in vitro functional characterization in collaboration with international research
- Expression studies of genes involved in inflammation and oxidation on atherosclerotic plaques withdrawn during carotid endarterectomy and correlation between circulating biomarkers such as Lipoprtotein (a) and Galectin-3.
- Maria Donata Di Taranto, researcher of Clinical Biochemistry and Clinical Molecular Biology (SSD BIO/12)
- Carola Giacobbe, fellowship recipient
- Daniela Palma, attending the post graduate school of Clinical Pathology and Clinical Biochemistry
- Giovanna Maione, attending the post graduate school of Clinical Pathology and Clinical Biochemistry
1: Di Taranto MD, de Falco R, Guardamagna O, Massini G, Giacobbe C, Auricchio R, Malamisura B, Proto M, Palma D, Greco L, Fortunato G. Lipid profile and genetic
status in a familial hypercholesterolemia pediatric population: exploring the LDL/HDL ratio. Clin Chem Lab Med. 2019 Feb 2. doi:10.1515/cclm-2018-1037. [Epub ahead of print] PubMed PMID: 30710474.
2: Péterfy M, Bedoya C, Giacobbe C, Pagano C, Gentile M, Rubba P, Fortunato G, Di Taranto MD. Characterization of two novel pathogenic variants at compound heterozygous status in lipase maturation factor 1 gene causing severe hypertriglyceridemia. J Clin Lipidol. 2018 Sep - Oct;12(5):1253-1259. doi: 10.1016/j.jacl.2018.07.008.
3: Di Taranto MD, Benito-Vicente A, Giacobbe C, Uribe KB, Rubba P, Etxebarria A, Guardamagna O, Gentile M, Martín C, Fortunato G. Identification and in vitro characterization of two new PCSK9 Gain of Function variants found in patients with Familial Hypercholesterolemia. Sci Rep. 2017 Nov 10;7(1):15282. doi:10.1038/s41598-017-15543-x.
4: Rubba P, Gentile M, Marotta G, Iannuzzi A, Sodano M, De Simone B, Jossa F, Iannuzzo G, Giacobbe C, Di Taranto MD, Fortunato G. Causative mutations and premature cardiovascular disease in patients with heterozygous familial hypercholesterolaemia. Eur J Prev Cardiol. 2017 Jul;24(10):1051-1059. doi: 10.1177/2047487317702040.
5: Futema M, Shah S, Cooper JA, Li K, Whittall RA, Sharifi M, Goldberg O, Drogari E, Mollaki V, Wiegman A, Defesche J, D'Agostino MN, D'Angelo A, Rubba P, Fortunato G, Waluś-Miarka M, Hegele RA, Aderayo Bamimore M, Durst R, Leitersdorf E, Mulder MT, Roeters van Lennep JE, Sijbrands EJ, Whittaker JC, Talmud PJ, Humphries SE. Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in samples from 6 countries. Clin Chem. 2015 Jan;61(1):231-8. doi: 10.1373/clinchem.2014.231365.