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3. Real‐World Effectiveness of PCSK9 Inhibitors in Reducing LDL‐C in Patients With Familial Hypercholesterolemia in Italy: A Retrospective Cohort Study Based on the AIFA Monitoring Registries

Author

Arca, Marcello, primary, Celant, Simone, additional, Olimpieri, Pier Paolo, additional, Colatrella, Antonietta, additional, Tomassini, Luca, additional, D'Erasmo, Laura, additional, Averna, Maurizio, additional, Zambon, Alberto, additional, Catapano, Alberico Luigi, additional, and Russo, Pierluigi, additional

Published
2023
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5. HDL in Infectious Diseases and Sepsis

Author

Pirillo, Angela, Catapano, Alberico Luigi, Norata, Giuseppe Danilo, Rosenthal, Walter, Editor-in-chief, Barrett, James E., Series editor, Flockerzi, Veit, Series editor, Frohman, Michael A., Series editor, Geppetti, Pierangelo, Series editor, Hofmann, Franz B., Series editor, Michel, Martin C., Series editor, Moore, Philip, Series editor, Page, Clive P., Series editor, Thorburn, Andrew M., Series editor, Wang, KeWei, Series editor, von Eckardstein, Arnold, editor, and Kardassis, Dimitris, editor

Published
2015
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6. Lipoprotein(a) Genotype Influences the Clinical Diagnosis of Familial Hypercholesterolemia

Author

Olmastroni, Elena, primary, Gazzotti, Marta, additional, Averna, Maurizio, additional, Arca, Marcello, additional, Tarugi, Patrizia, additional, Calandra, Sebastiano, additional, Bertolini, Stefano, additional, Catapano, Alberico L., additional, Casula, Manuela, additional, D’Erasmo, Laura, additional, Cefalù, Angelo Baldassare, additional, Bartuli, Andrea, additional, Buonuomo, Paola Sabrina, additional, Benso, Andrea, additional, Beccuti, Guglielmo, additional, Biasucci, Giacomo, additional, Capra, Maria Elena, additional, Biolo, Gianni, additional, Vinci, Pierandrea, additional, Bonanni, Luca, additional, Borghi, Claudio, additional, D’Addato, Sergio, additional, Bossi, Antonio Carlo, additional, Meregalli, Giancarla, additional, Branchi, Adriana, additional, Calabrò, Paolo, additional, Carubbi, Francesca, additional, Nascimbeni, Fabio, additional, Cipollone, Francesco, additional, Bucci, Marco, additional, Citroni, Nadia, additional, Del Ben, Maria, additional, Baratta, Francesco, additional, Federici, Massimo, additional, Montagna, Martina, additional, Ferri, Claudio, additional, Notargiacomo, Serena, additional, Fiorenza, Anna Maria, additional, Colombo, Emanuela, additional, Fortunato, Giuliana, additional, Di Taranto, Maria Donata, additional, Giaccari, Andrea, additional, Moffa, Simona, additional, Giorgino, Francesco, additional, Di Molfetta, Sergio, additional, Guardamagna, Ornella, additional, De Sanctis, Luisa, additional, Iannuzzi, Arcangelo, additional, Cavallaro, Raimondo, additional, Iannuzzo, Gabriella, additional, Gentile, Marco, additional, Iughetti, Lorenzo, additional, Bruzzi, Patrizia, additional, Lia, Salvatore, additional, Lupi, Alessandro, additional, Mandraffino, Giuseppe, additional, Toscano, Arianna, additional, Marcucci, Rossella, additional, Berteotti, Martina, additional, Maroni, Lorenzo, additional, Locatelli, Fabiana, additional, Montalcini, Tiziana, additional, Mombelli, Giuliana, additional, Muntoni, Sandro, additional, Baldera, Davide, additional, Parati, Gianfranco, additional, Passaro, Angelina, additional, Pecchioli, Valerio, additional, Pederiva, Cristina, additional, Banderali, Giuseppe, additional, Pipolo, Antonio, additional, D’Elia, Debora, additional, Pirro, Matteo, additional, Bianconi, Vanessa, additional, Pisciotta, Livia, additional, Formisano, Elena, additional, Purrello, Francesco, additional, Scicali, Roberto, additional, Repetti, Elena, additional, Cantino, Elena, additional, Rinaldi, Elisabetta, additional, Sani, Elena, additional, Sarzani, Riccardo, additional, Spannella, Francesco, additional, Sbrana, Francesco, additional, Dal Pino, Beatrice, additional, Suppressa, Patrizia, additional, Cocco, Veronica, additional, Trenti, Chiara, additional, Negri, Emanuele Alberto, additional, Werba, Josè Pablo, additional, Romandini, Alessandra, additional, Zambon, Sabina, additional, Zambon, Alberto, additional, Zenti, Maria Grazia, additional, Fainelli, Giulia, additional, Pellegatta, Fabio, additional, Grigore, Liliana, additional, Bonomo, Katia, additional, Capatti, Eleonora, additional, Cutolo, Ada, additional, Fimiani, Fabio, additional, Genovesi, Simonetta, additional, Inchiostro, Sandro, additional, Pavanello, Chiara, additional, Pujia, Roberta, additional, Schaffer, Alon, additional, Catapano, Alberico Luigi, additional, Olmastroni, Elena, additional, and Galimberti, Federica, additional

Published
2023
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7. Clinical Approach in the Management of Paediatric Patients with Familial Hypercholesterolemia: A National Survey Conducted by the LIPIGEN Paediatric Group

Author

Pederiva, C, Gazzotti, M, Arca, M, Averna, M, Banderali, G, Biasucci, G, Brambilla, M, Buonuomo, P, Calabrò, P, Cipollone, F, Citroni, N, D'Addato, S, Del Ben, M, Genovesi, S, Guardamagna, O, Iannuzzo, G, Iughetti, L, Mandraffino, G, Maroni, L, Mombelli, G, Muntoni, S, Nascimbeni, F, Passaro, A, Pellegatta, F, Pirro, M, Pisciotta, L, Pujia, R, Sarzani, R, Scicali, R, Suppressa, P, Zambon, S, Zenti, M, Calandra, S, Catapano, A, Tarugi, P, Galimberti, F, Casula, M, Capra, M, Pederiva, Cristina, Gazzotti, Marta, Arca, Marcello, Averna, Maurizio, Banderali, Giuseppe, Biasucci, Giacomo, Brambilla, Marta, Buonuomo, Paola Sabrina, Calabrò, Paolo, Cipollone, Francesco, Citroni, Nadia, D'Addato, Sergio, Del Ben, Maria, Genovesi, Simonetta, Guardamagna, Ornella, Iannuzzo, Gabriella, Iughetti, Lorenzo, Mandraffino, Giuseppe, Maroni, Lorenzo, Mombelli, Giuliana, Muntoni, Sandro, Nascimbeni, Fabio, Passaro, Angelina, Pellegatta, Fabio, Pirro, Matteo, Pisciotta, Livia, Pujia, Roberta, Sarzani, Riccardo, Scicali, Roberto, Suppressa, Patrizia, Zambon, Sabina, Zenti, Maria Grazia, Calandra, Sebastiano, Catapano, Alberico Luigi, Tarugi, Patrizia, Galimberti, Federica, Casula, Manuela, Capra, Maria Elena, Pederiva, C, Gazzotti, M, Arca, M, Averna, M, Banderali, G, Biasucci, G, Brambilla, M, Buonuomo, P, Calabrò, P, Cipollone, F, Citroni, N, D'Addato, S, Del Ben, M, Genovesi, S, Guardamagna, O, Iannuzzo, G, Iughetti, L, Mandraffino, G, Maroni, L, Mombelli, G, Muntoni, S, Nascimbeni, F, Passaro, A, Pellegatta, F, Pirro, M, Pisciotta, L, Pujia, R, Sarzani, R, Scicali, R, Suppressa, P, Zambon, S, Zenti, M, Calandra, S, Catapano, A, Tarugi, P, Galimberti, F, Casula, M, Capra, M, Pederiva, Cristina, Gazzotti, Marta, Arca, Marcello, Averna, Maurizio, Banderali, Giuseppe, Biasucci, Giacomo, Brambilla, Marta, Buonuomo, Paola Sabrina, Calabrò, Paolo, Cipollone, Francesco, Citroni, Nadia, D'Addato, Sergio, Del Ben, Maria, Genovesi, Simonetta, Guardamagna, Ornella, Iannuzzo, Gabriella, Iughetti, Lorenzo, Mandraffino, Giuseppe, Maroni, Lorenzo, Mombelli, Giuliana, Muntoni, Sandro, Nascimbeni, Fabio, Passaro, Angelina, Pellegatta, Fabio, Pirro, Matteo, Pisciotta, Livia, Pujia, Roberta, Sarzani, Riccardo, Scicali, Roberto, Suppressa, Patrizia, Zambon, Sabina, Zenti, Maria Grazia, Calandra, Sebastiano, Catapano, Alberico Luigi, Tarugi, Patrizia, Galimberti, Federica, Casula, Manuela, and Capra, Maria Elena

Abstract

Detection and treatment of patients with familial hypercholesterolemia (FH) starting from childhood is fundamental to reduce morbidity and mortality. The activity of National realities such as the LIPIGEN (LIpid transPort disorders Italian GEnetic Network) Paediatric Group, founded in 2018, is a milestone in this context. The aim of this exploratory survey, conducted in October 2021 among Italian lipid clinics included in the LIPIGEN Paediatric Group, was to investigate the current clinical approach in the management and treatment of paediatric patients with suspected FH. A digital questionnaire composed of 20 questions investigating nutritional treatment and nutraceutical and pharmacological therapy for children and adolescents with FH was proposed to the principal investigators of 30 LIPIGEN centres. Twenty-four centres responded to the section referring to children aged < 10 years and 30 to that referring to adolescents. Overall, 66.7% of children and 73.3% of adolescents were given lipid-lowering nutritional treatment as the first intervention level for at least 3–4 months (29.2% and 23.3%) or 6–12 months (58.3% and 53.3%). Nutraceuticals were considered in 41.7% (regarding children) and 50.0% (regarding adolescents) of the centres as a supplementary approach to diet. Lipid-lowering drug therapy initiation was mainly recommended (91.7% and 80.0%). In 83.3% of children and 96.7% of adolescents, statins were the most frequently prescribed drug. We highlighted several differences in the treatment of paediatric patients with suspected FH among Italian centres; however, the overall approach is in line with the European Atherosclerosis Society (EAS) recommendations for FH children and adolescents. We consider this survey as a starting point to reinforce collaboration between LIPIGEN centres and to elaborate in the near future a consensus document on the management of paediatric patients with suspected FH so as to improve and uniform detection, management, and treat

Published
2023

10. The low-density lipoprotein receptor–mTORC1 axis coordinates CD8+ T cell activation

Author

Bonacina, Fabrizia, primary, Moregola, Annalisa, additional, Svecla, Monika, additional, Coe, David, additional, Uboldi, Patrizia, additional, Fraire, Sara, additional, Beretta, Simona, additional, Beretta, Giangiacomo, additional, Pellegatta, Fabio, additional, Catapano, Alberico Luigi, additional, Marelli-Berg, Federica M., additional, and Norata, Giuseppe Danilo, additional

Published
2022
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12. Zc3h10 is a novel mitochondrial regulator

Author

Audano, Matteo, Pedretti, Silvia, Cermenati, Gaia, Brioschi, Elisabetta, Diaferia, Giuseppe Riccardo, Ghisletti, Serena, Cuomo, Alessandro, Bonaldi, Tiziana, Salerno, Franco, Mora, Marina, Grigore, Liliana, Garlaschelli, Katia, Baragetti, Andrea, Bonacina, Fabrizia, Catapano, Alberico Luigi, Norata, Giuseppe Danilo, Crestani, Maurizio, Caruso, Donatella, Saez, Enrique, De Fabiani, Emma, and Mitro, Nico

Published
2018
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13. The Role of Registers in Increasing Knowledge and Improving Management of Children and Adolescents Affected by Familial Hypercholesterolemia: the LIPIGEN Pediatric Group

Author

Gazzotti, Marta, Casula, Manuela, Bertolini, Stefano, Capra, Maria Elena, Olmastroni, Elena, Catapano, Alberico Luigi, Pederiva, Cristina, and the LIPIGEN Pediatric Group: Massimiliano Allevi, Internal Medicine and Geriatrics, Department of Clinical and Molecular Sciences, University 'Politecnica delle Marche' and IRCCS-INRCA, Ancona, Italy, Marcello, Arca, Dipartimento di Medicina Traslazionale, e di Precisione, O Policlinico Umberto I, Sapienza Università di Roma—A. U., Rome, Italy, Renata, Auricchio, Dipartimento di Scienze Mediche Traslazionali, AOU Policlinico Federico II, Naples, Italy, Averna, Maurizio, Dipartimento di Promozione della Salute, Materno-Infantile, di Medicina Interna, e Specialistica di Eccellenza, Università degli Studi di Palermo, Palermo, Italy, Davide, Baldera, Dipartimento di Scienze Biomediche, Università degli Studi di Cagliari and Centro per le Malattie Dismetaboliche, e l’Arteriosclerosi, Onlus Cagliari, Associazione ME. DI. CO., Cagliari, Italy, Giuseppe, Banderali, Clinica Pediatrica, U. O., Servizio Clinico Dislipidemie per lo Studio, e la Prevenzione dell’Aterosclerosi in età Pediatrica, ASSTSanti Paolo, e Carlo, Milan, Italy, Andrea, Bartuli, UOC Malattie Rare, e Genetica Medica, Ospedale Pediatrico Bambino Gesù, Irccs, Rome, Italy, Stefano, Bertolini, Department of Internal Medicine, University of Genova, Genova, Italy, Giacomo, Biasucci, Centro Dislipidemie in Età Evolutiva, Pediatria e Neonatologia, U. O., Ospedale Guglielmo da Saliceto, Piacenza, Italy, Claudio, Borghi, di Medicina Interna Cardiovascolare, U. O., Centro, Aterosclerosi, Ambulatorio, Dislipidemie, Orsola-Malpighi, IRCCS S. Orsola Ospedale Policlinico S., Bologna, Italy, Patrizia, Bruzzi, Pediatria, U. O. C., Azienda Ospedaliero Universitaria di Modena, Modena, Italy, Raffaele, Buganza, Paediatric, Endocrinology, Department of Public Health and Paediatric Sciences, Turin, University, Turin, Italy, Paola Sabrina Buonuomo, Paolo, Calabrò, U. O. C. Cardiologia Clinica a Direzione Universitaria e U. T. I. C., 'Sant’Anna e San Sebastiano', A. O. R. N., Italy and Dipartimento di Scienze Mediche Traslazionali, Università degli Studi della Campania, Sebastiano, Calandra, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Maria Elena Capra, Francesca, Carubbi, Medicina interna metabolica, U. O., Centro dislipidemie, e malattie metaboliche rare, Ospedale Civile Baggiovara, AOU di Modena, Manuela, Casula, Dipartimento di Scienze Farmacologiche, e Biomolecolari, Università degli Studi di Milano, and IRCCS MultiMedica, Sesto San Giovanni (Milan), Alberico Luigi Catapano, Arturo, Cesaro, Università degli Studi della Campania 'Luigi Vanvitelli', Francesco, Cipollone, Clinica, Medica, Centro di riferimento regionale per le Dislipidemie, Annunziata, Ospedale Policlinico S. S., Chieti, Italy, Nadia, Citroni, Centro Dislipidemie, e Aterosclerosi, UOC Medicina Interna, Ospedale di Trento, Trento, Italy, Giuseppe, Covetti, Medicina Interna 2, U. O., Centro per le malattie da arteriosclerosi, Aorn, Cardarelli, Annalaura, Cremonini, IRCCS Ospedale policlinico San Martino UOSD Dietetica, e Nutrizione Clinica and Dipartimento di Medicina Interna, Università di Genova, Sergio, D’Addato, Maria Del Ben, Dipartimento Scienze Cliniche, Internistiche, Anestesiologiche e Cardiovascolari, - Sapienza Università, Policlinico Umberto I, A. O., Maria Donata Di Taranto, Dipartimento di Medicina Molecolare, e Biotecnologie Mediche, Università degli studi di Napoli Federico II and CEINGE Biotecnologie Avanzate, s. c. a. r. l., Giuliana, Fortunato, Roberto, Franceschi, Uoc, Pediatria, Federica, Galimberti, Irccs, Multimedica, Marta, Gazzotti, Fondazione SISA (Società Italiana per lo Studio dell’Aterosclerosi), Simonetta, Genovesi, IRCCS Istituto Auxologico Italiano and Dipartimento di Medicina, e Chirurgia, Università di Milano- Bicocca, Antonina, Giammanco, Liliana, Grigore, Centro per lo Studio dell’Aterosclerosi, Italy and Centro per lo Studio dell’Aterosclerosi, Bassini, Ospedale E., Cinisello, Balsamo, Ornella, Guardamagna, Arcangelo, Iannuzzi, Gabriella, Iannuzzo, Dipartimento di Medicina Clinica, e Chirurgia, Centro Coordinamento regionale per le Iperlipidemie, Lidia Lascala, AOU Mater Domini, Fabiana, Locatelli, Ambulatorio ipertensione dislipidemie rischio cardiovascolare, ASST Valle Olona, Ospedale di Gallarate, Gallarate, Italy, Ospedale di Busto Arsizio, Busto, Arsizio, Lorenzo, Iughetti, Sara, Madaghiele, Frugoni' and Centro di Assistenza e Ricerca Malattie Rare, U. O. di Medicina Interna e Geriatria 'C., Universitaria Policlinico Consorziale, A. O., Università degli Studi di Bari 'Aldo Moro', Bari, Italy, Giuseppe, Mandraffino, Martino, Department of Clinical and Experimental Medicine—Lipid Center—University Hospital G., Messina, Italy, Massimo Raffaele Mannarino, Internal, Medicine, University of Perugia, Angiology and Arteriosclerosis Diseases. Department of Medicine and Surgery., Perugia, Italy, Bucci, Marco, Lorenzo, Maroni, Ilenia, Minicocci, Giuliana, Mombelli, Centro Dislipidemie ASST Grande Ospedale Metropolitano Niguarda, Sandro, Muntoni, Fabio, Nascimbeni, Elena, Olmastroni, Servizio di Epidemiologia, e Farmacologia Preventiva (SEFAP), Dipartimento di Science Farmacologiche, e Biomolecolari, Gianfranco, Parati, Università di Milano-Bicocca, Angelina, Passaro, Department of Translational Medicine, University of Ferrara, Italy and Research and Innovation Section, University Hospital of Ferrara Arcispedale Sant’Anna, Chiara, Pavanello, Milan, Italy and Centro Grossi Paoletti, Milano, Italy, Cristina, Pederiva, ASST-Santi Paolo, e Carlo, Fabio, Pellegatta, Francesco Massimo Perla, Dipartimento Materno Infantile, e Scienze Urologiche—Sapienza Università, Medicina, Generale, Ospedale di Trecenta, Trecenta, Rovigo, Matteo, Pirro, Livia, Pisciotta, Arturo, Pujia, Mater Domini, A. O. U., UOC di Nutrizione Clinica, Purrello, Francesco, Department of Clinical and Experimental Medicine, University of Catania, Ospedale, Garibaldi, Catania, Italy, Elisabetta, Rinaldi, Endocrinologia, U. O., Diabetologia, e Malattie del Metabolismo, Universitaria Integrata di Verona, Centro regionale specializzato per la diagnosi e terapia delle dislipidemie e aferesi terapeutica and A. O., Verona, Italy, Riccardo, Sarzani, Scicali, Roberto, Patrizia, Suppressa, Patrizia, Tarugi, Department of Life Sciences, Sabrina, Verachtert, Giovanni Battista Vigna, Josè Pablo Werba, Ambulatorio Prevenzione Aterosclerosi, U. O., IRCCS Centro Cardiologico Monzino, Alberto, Zambon, Dipartimento di Medicina, Università di Padova, Padua, Italy, Sabina, Zambon, Maria Grazia Zenti, Servizio di Diabetologia, e Malattie Metaboliche, Pederzoli, Ospedale P., Peschiera del Garda, and Verona, Italy.

Subjects
genetic diagnosis, clinical diagnosis, familial hypercholesterolemia, cardiovascular genetics, pathology register, pediatric cohort, Settore BIO/14 - Farmacologia, Genetics, Molecular Medicine, Genetics (clinical)
Abstract

Pathology registers can be a useful tool to overcome obstacles in the identification and management of familial hypercholesterolemia since childhood. In 2018, the LIPIGEN pediatric group was constituted within the Italian LIPIGEN study to focus on FH subjects under 18 years. This work aimed at discussing its recent progress and early outcomes. Demographic, biochemical, and genetic baseline characteristics were collected, with an in-depth analysis of the genetic defects. The analysis was carried out on 1,602 children and adolescents (mean age at baseline 9.9 ± 4.0 years), and almost the whole cohort underwent the genetic test (93.3%). Overall, the untreated mean value of LDL-C was 220.0 ± 97.2 mg/dl, with an increasing gradient from subjects with a negative (N = 317; mean untreated LDL-C = 159.9 ± 47.7 mg/dl), inconclusive (N = 125; mean untreated LDL-C = 166.4 ± 56.5 mg/dl), or positive (N = 1,053; mean untreated LDL-C = 246.5 ± 102.1 mg/dl) genetic diagnosis of FH. In the latter group, the LDL-C values presented a great variability based on the number and the biological impact of involved causative variants. The LIPIGEN pediatric group represents one of the largest cohorts of children with FH, allowing the deepening of the characterization of their baseline and genetic features, providing the basis for further longitudinal investigations for complete details.

Published
2022
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14. Oral Porphyromonas gingivalis and Fusobacterium nucleatum Abundance in Subjects in Primary and Secondary Cardiovascular Prevention, with or without Heterozygous Familial Hypercholesterolemia

Author

Curia, Maria Cristina, primary, Pignatelli, Pamela, additional, D’Antonio, Domenica Lucia, additional, D’Ardes, Damiano, additional, Olmastroni, Elena, additional, Scorpiglione, Luca, additional, Cipollone, Francesco, additional, Catapano, Alberico Luigi, additional, Piattelli, Adriano, additional, Bucci, Marco, additional, and Magni, Paolo, additional

Published
2022
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18. The Role of Registers in Increasing Knowledge and Improving Management of Children and Adolescents Affected by Familial Hypercholesterolemia: the LIPIGEN Pediatric Group.

Author

Gazzotti, Marta, Casula, Manuela, Bertolini, Stefano, Capra, Maria Elena, Olmastroni, Elena, Catapano, Alberico Luigi, and Pederiva, Cristina

Subjects
FAMILIAL hypercholesterolemia, GENETIC disorder diagnosis, TEENAGERS, LDL cholesterol, GENETIC testing
Abstract

Pathology registers can be a useful tool to overcome obstacles in the identification and management of familial hypercholesterolemia since childhood. In 2018, the LIPIGEN pediatric group was constituted within the Italian LIPIGEN study to focus on FH subjects under 18 years. This work aimed at discussing its recent progress and early outcomes. Demographic, biochemical, and genetic baseline characteristics were collected, with an in-depth analysis of the genetic defects. The analysis was carried out on 1,602 children and adolescents (mean age at baseline 9.9 ± 4.0 years), and almost the whole cohort underwent the genetic test (93.3%). Overall, the untreated mean value of LDL-C was 220.0 ± 97.2 mg/dl, with an increasing gradient from subjects with a negative (N = 317; mean untreated LDL-C = 159.9 ± 47.7 mg/dl), inconclusive (N = 125; mean untreated LDL-C = 166.4 ± 56.5 mg/dl), or positive (N = 1,053; mean untreated LDL-C = 246.5 ± 102.1 mg/dl) genetic diagnosis of FH. In the latter group, the LDL-C values presented a great variability based on the number and the biological impact of involved causative variants. The LIPIGEN pediatric group represents one of the largest cohorts of children with FH, allowing the deepening of the characterization of their baseline and genetic features, providing the basis for further longitudinal investigations for complete details. [ABSTRACT FROM AUTHOR]

Published
2023
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19. Twelve Variants Polygenic Score for Low‐Density Lipoprotein Cholesterol Distribution in a Large Cohort of Patients With Clinically Diagnosed Familial Hypercholesterolemia With or Without Causative Mutations

Author

Olmastroni, Elena, primary, Gazzotti, Marta, additional, Arca, Marcello, additional, Averna, Maurizio, additional, Pirillo, Angela, additional, Catapano, Alberico Luigi, additional, Casula, Manuela, additional, Bertolini, Stefano, additional, Calandra, Sebastiano, additional, Tarugi, Patrizia, additional, Pellegatta, Fabio, additional, Bartuli, Andrea, additional, Benso, Andrea, additional, Biasucci, Giacomo, additional, Biolo, Gianni, additional, Bonanni, Luca, additional, Bonomo, Katia, additional, Borghi, Claudio, additional, Bossi, Antonio Carlo, additional, Branchi, Adriana, additional, Calabrò, Paolo, additional, Carubbi, Francesca, additional, Cipollone, Francesco, additional, Citroni, Nadia, additional, Del Ben, Maria, additional, Federici, Massimo, additional, Ferri, Claudio, additional, Fiorenza, Anna Maria, additional, Giaccari, Andrea, additional, Guardamagna, Ornella, additional, Iannuzzi, Arcangelo, additional, Iannuzzo, Gabriella, additional, Iughetti, Lorenzo, additional, Lupattelli, Graziana, additional, Lupi, Alessandro, additional, Mandraffino, Giuseppe, additional, Marcucci, Rossella, additional, Maroni, Lorenzo, additional, Mombelli, Giuliana, additional, Muntoni, Sandro, additional, Pecchioli, Valerio, additional, Pederiva, Cristina, additional, Pipolo, Antonio, additional, Pisciotta, Livia, additional, Pujia, Antonio, additional, Purrello, Francesco, additional, Repetti, Elena, additional, Sabbà, Carlo, additional, Sarzani, Riccardo, additional, Trenti, Chiara, additional, Vigna, Giovanni Battista, additional, Werba, Josè Pablo, additional, Zambon, Sabina, additional, Zenti, Maria Grazia, additional, Di Costanzo, Alessia, additional, Fortunato, Giuliana, additional, Spina, Rossella, additional, Baldera, Davide, additional, Banderali, Giuseppe, additional, Baratta, Francesco, additional, Beccuti, Guglielmo, additional, Bertocco, Sandra, additional, Bruzzi, Patrizia, additional, Bucci, Marco, additional, Buonuomo, Paola Sabrina, additional, Capra, Maria Elena, additional, Cardolini, Iris, additional, Cefalù, Angelo Baldassarre, additional, Cinquegrani, Maria, additional, Colombo, Emanuela, additional, Covetti, Giuseppe, additional, Cremonini, Anna Laura, additional, Cutolo, Ada, additional, D’Addato, Sergio, additional, D’Ambrosio, Vincenzo, additional, De Corrado, Giuseppe, additional, Di Pentima, Chiara, additional, Fimiani, Fabio, additional, Gentile, Marco, additional, Ghirardello, Omar, additional, Giusti, Betti, additional, Grassi, Davide, additional, Grigore, Liliana, additional, Massini, Giulia, additional, Meregalli, Giancarla, additional, Minicocci, Ilenia, additional, Moffa, Simona, additional, Montalcini, Tiziana, additional, Nascimbeni, Fabio, additional, Negri, Emanuele Alberto, additional, Pavanello, Chiara, additional, Prati, Lucia, additional, Roscini, Anna Rita, additional, Sani, Elena, additional, Schaffer, Alon, additional, Scicali, Roberto, additional, Suppressa, Patrizia, additional, Tedeschi, Michele, additional, Vinci, Pierandrea, additional, Manzato, Enzo, additional, Tragni, Elena, additional, and Zampoleri, Veronica, additional

Published
2022
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26. A Synthetic Peptide Designed to Neutralize Lipopolysaccharides Attenuates Metaflammation and Diet-Induced Metabolic Derangements in Mice

Author

Mohammad, Shireen, primary, Al Zoubi, Sura, additional, Collotta, Debora, additional, Krieg, Nadine, additional, Wissuwa, Bianka, additional, Ferreira Alves, Gustavo, additional, Purvis, Gareth S. D., additional, Norata, Giuseppe Danilo, additional, Baragetti, Andrea, additional, Catapano, Alberico Luigi, additional, Solito, Egle, additional, Zechendorf, Elisabeth, additional, Schürholz, Tobias, additional, Correa-Vargas, Wilmar, additional, Brandenburg, Klaus, additional, Coldewey, Sina M., additional, Collino, Massimo, additional, Yaqoob, Muhammad M., additional, Martin, Lukas, additional, and Thiemermann, Christoph, additional

Published
2021
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27. PCSK9 deficiency rewires heart metabolism and drives heart failure with preserved ejection fraction

Author

Da Dalt, Lorenzo, primary, Castiglioni, Laura, additional, Baragetti, Andrea, additional, Audano, Matteo, additional, Svecla, Monika, additional, Bonacina, Fabrizia, additional, Pedretti, Silvia, additional, Uboldi, Patrizia, additional, Benzoni, Patrizia, additional, Giannetti, Federica, additional, Barbuti, Andrea, additional, Pellegatta, Fabio, additional, Indino, Serena, additional, Donetti, Elena, additional, Sironi, Luigi, additional, Mitro, Nico, additional, Catapano, Alberico Luigi, additional, and Norata, Giuseppe Danilo, additional

Published
2021
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29. Multifactorial Activation of NLRP3 Inflammasome: Relevance for a Precision Approach to Atherosclerotic Cardiovascular Risk and Disease

Author

Baragetti, Andrea, Catapano, Alberico Luigi, and Magni, Paolo

Subjects
Inflammasomes, interleukin-1β, Review, NLRP3 inflammasome, lcsh:Chemistry, lcsh:Biology (General), lcsh:QD1-999, Cardiovascular Diseases, Heart Disease Risk Factors, cardiovascular disease, single nucleotide polymorphism, NLR Family, Pyrin Domain-Containing 3 Protein, low-grade inflammation, Humans, Precision Medicine, atherosclerosis, lcsh:QH301-705.5
Abstract

Chronic low-grade inflammation, through the specific activation of the NACHT leucine-rich repeat- and PYD-containing (NLRP)3 inflammasome-interleukin (IL)-1β pathway, is an important contributor to the development of atherosclerotic cardiovascular disease (ASCVD), being triggered by intracellular cholesterol accumulation within cells. Within this pathological context, this complex pathway is activated by a number of factors, such as unhealthy nutrition, altered gut and oral microbiota, and elevated cholesterol itself. Moreover, evidence from autoinflammatory diseases, like psoriasis and others, which are also associated with higher cardiovascular disease (CVD) risk, suggests that variants of NLRP3 pathway-related genes (like NLRP3 itself, caspase recruitment domain-containing protein (CARD)8, caspase-1 and IL-1β) may carry gain-of-function mutations leading, in some individuals, to a constitutive pro-inflammatory pattern. Indeed, some reports have recently associated the presence of specific single nucleotide polymorphisms (SNPs) on such genes with greater ASCVD prevalence. Based on these observations, a potential effective strategy in this context may be the identification of carriers of these NLRP3-related SNPs, to generate a genomic score, potentially useful for a better CVD risk prediction, and, possibly, for personalized therapeutic approaches targeted to the NLRP3-IL-1β pathway.

Published
2020

30. Gut Microbiota Functional Dysbiosis Relates to Individual Diet in Subclinical Carotid Atherosclerosis

Author

Baragetti, Andrea, primary, Severgnini, Marco, additional, Olmastroni, Elena, additional, Dioguardi, Carola Conca, additional, Mattavelli, Elisa, additional, Angius, Andrea, additional, Rotta, Luca, additional, Cibella, Javier, additional, Caredda, Giada, additional, Consolandi, Clarissa, additional, Grigore, Liliana, additional, Pellegatta, Fabio, additional, Giavarini, Flavio, additional, Caruso, Donatella, additional, Norata, Giuseppe Danilo, additional, Catapano, Alberico Luigi, additional, and Peano, Clelia, additional

Published
2021
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33. Adoptive transfer of CX3CR1 transduced-T regulatory cells improves homing to the atherosclerotic plaques and dampens atherosclerosis progression

Author

Bonacina, Fabrizia, primary, Martini, Elisa, additional, Svecla, Monika, additional, Nour, Jasmine, additional, Cremonesi, Marco, additional, Beretta, Giangiacomo, additional, Moregola, Annalisa, additional, Pellegatta, Fabio, additional, Zampoleri, Veronica, additional, Catapano, Alberico Luigi, additional, Kallikourdis, Marinos, additional, and Norata, Giuseppe Danilo, additional

Published
2020
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40. Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN)

Author

Averna, Maurizio, Cefalã¹, Angelo B., Casula, Manuela, Noto, Davide, Arca, Marcello, Bertolini, Stefano, Calandra, Sebastiano, Catapano, Alberico L., Tarugi, Patrizia, Catapano, Alberico Luigi, Pellegatta, Fabio, Angelico, Francesco, Bartuli, Andrea, Biasucci, Giacomo, Biolo, Gianni, Bonanni, Luca, Bonomo, Katia, Borghi, Claudio, Bossi, Antonio Carlo, Branchi, Adriana, Carubbi, Francesca, Cipollone, Francesco, Citroni, Nadia, Federici, Massimo, Ferri, Claudio, Fiorenza, Anna Maria, Giaccari, Andrea, Giorgino, Francesco, Guardamagna, Ornella, Iannuzzi, Arcangelo, Iughetti, Lorenzo, Lupattelli, Graziana, Mandraffino, Giuseppe, Marcucci, Rossella, Mombelli, Giuliana, Muntoni, Sandro, Pecchioli, Valerio, Pederiva, Cristina, Pipolo, Antonio, Pisciotta, Livia, Pujia, Arturo, Purrello, Francesco, Repetti, Elena, Rubba, Paolo, SabbÃ&nbsp, Carlo, Sampietro, Tiziana, Sarzani, Riccardo, Tagliabue, Milena Paola, Trenti, Chiara, Vigna, Giovanni Battista, Werba, Josà Pablo, Zambon, Sabina, Zenti, Maria Grazia, Montali, Anna, Fortunato, Giuliana, Grigore, Liliana, Del Ben, Maria, Maranghi, Marianna, Barbagallo, Carlo M., Buonuomo, Paola Sabrina, Capra, Maria Elena, Vinci, Pierandrea, D'Addato, Sergio, Galbiati, Stella, Nascimbeni, Fabio, Bucci, Marco, Spagnoli, Walter, Cardolini, Iris, Cervelli, Nazzareno, Emanuela, Colombo, Vinsin, A. Sun, Laviola, Luigi, Bello, Francesca, Chiariello, Giuseppe, Predieri, Barbara, Siepi, Donatella, Saitta, Antonino, Giusti, Betti, Pavanello, Chiara, Lussu, Milena, Prati, Lucia, Banderali, Giuseppe, Balleari, Giulia, Montalcini, Tiziana, Scicali, Roberto, Gentile, Luigi, Gentile, Marco, Suppressa, Patrizia, Sbrana, Francesco, Cocci, Guido, Benso, Andrea, Negri, Emanuele Alberto, Ghirardello, Omar, Lorenzo, Vigo, Zambon, Alberto, Enzo, Bonora, Minicocci, Ilenia, Spina, Rossella, Orlando, Camilla, Di Taranto, Maria Donata, Chiodo, Lorenzo, Garlaschelli, Katia, Manzato, Enzo, Tragni, Elena, Averna, M., Cefalu', A., Casula, M., Noto, D., Arca, M., Bertolini, S., Calandra, S., Catapano, A., Tarugi, P., Pellegatta, F., Angelico, F., Bartuli, A., Biasucci, G., Biolo, G., Bonanni, L., Bonomo, K., Borghi, C., Bossi, A., Branchi, A., Carubbi, F., Cipollone, F., Citroni, N., Federici, M., Ferri, C., Fiorenza, A., Giaccari, A., Giorgino, F., Guardamagna, O., Iannuzzi, A., Iughetti, L., Lupattelli, G., Mandraffino, G., Marcucci, R., Mombelli, G., Muntoni, S., Pecchioli, V., Pederiva, C., Pipolo, A., Pisciotta, L., Pujia, A., Purrello, F., Repetti, E., Rubba, P., Sabbã , C., Sampietro, T., Sarzani, R., Tagliabue, M., Trenti, C., Vigna, G., Werba, J., Zambon, S., Zenti, M., Montali, A., Fortunato, G., Grigore, L., Del Ben, M., Maranghi, M., Cefalã¹, A., Barbagallo, C., Buonuomo, P., Capra, M., Vinci, P., D'Addato, S., Galbiati, S., Nascimbeni, F., Bucci, M., Spagnoli, W., Cardolini, I., Cervelli, N., Emanuela, C., Vinsin, A., Laviola, L., Bello, F., Chiariello, G., Predieri, B., Siepi, D., Saitta, A., Giusti, B., Pavanello, C., Lussu, M., Prati, L., Banderali, G., Balleari, G., Montalcini, T., Scicali, R., Gentile, L., Gentile, M., Suppressa, P., Sbrana, F., Cocci, G., Benso, A., Negri, E., Ghirardello, O., Lorenzo, V., Zambon, A., Enzo, B., Minicocci, I., Spina, R., Orlando, C., Di Taranto, M., Chiodo, L., Garlaschelli, K., Manzato, E., Tragni, E., Averna, Maurizio, Cefalã¹, Angelo B., Casula, Manuela, Noto, Davide, Arca, Marcello, Bertolini, Stefano, Calandra, Sebastiano, Catapano, Alberico L., Tarugi, Patrizia, Catapano, Alberico Luigi, Pellegatta, Fabio, Angelico, Francesco, Bartuli, Andrea, Biasucci, Giacomo, Biolo, Gianni, Bonanni, Luca, Bonomo, Katia, Borghi, Claudio, Bossi, Antonio Carlo, Branchi, Adriana, Carubbi, Francesca, Cipollone, Francesco, Citroni, Nadia, Federici, Massimo, Ferri, Claudio, Fiorenza, Anna Maria, Giaccari, Andrea, Giorgino, Francesco, Guardamagna, Ornella, Iannuzzi, Arcangelo, Iughetti, Lorenzo, Lupattelli, Graziana, Mandraffino, Giuseppe, Marcucci, Rossella, Mombelli, Giuliana, Muntoni, Sandro, Pecchioli, Valerio, Pederiva, Cristina, Pipolo, Antonio, Pisciotta, Livia, Pujia, Arturo, Purrello, Francesco, Repetti, Elena, Rubba, Paolo, Sabbã , Carlo, Sampietro, Tiziana, Sarzani, Riccardo, Tagliabue, Milena Paola, Trenti, Chiara, Vigna, Giovanni Battista, Werba, Josã Pablo, Zambon, Sabina, Zenti, Maria Grazia, Montali, Anna, Fortunato, Giuliana, Grigore, Liliana, DEL BELLO, Francesca, Maranghi, Marianna, Barbagallo, Carlo M., Buonuomo, Paola Sabrina, Capra, Maria Elena, Vinci, Pierandrea, D'Addato, Sergio, Galbiati, Stella, Nascimbeni, Fabio, Bucci, Marco, Spagnoli, Walter, Cardolini, Iri, Cervelli, Nazzareno, Emanuela, Colombo, Vinsin, A. Sun, Laviola, Luigi, Bello, Francesca, Chiariello, Giuseppe, Predieri, Barbara, Siepi, Donatella, Saitta, Antonino, Giusti, Betti, Pavanello, Chiara, Lussu, Milena, Prati, Lucia, Banderali, Giuseppe, Balleari, Giulia, Montalcini, Tiziana, Scicali, Roberto, Gentile, Luigi, Gentile, Marco, Suppressa, Patrizia, Sbrana, Francesco, Cocci, Guido, Benso, Andrea, Negri, Emanuele Alberto, Ghirardello, Omar, Lorenzo, Vigo, Zambon, Alberto, Enzo, Bonora, Minicocci, Ilenia, Spina, Rossella, Orlando, Camilla, Di Taranto, Maria Donata, Chiodo, Lorenzo, Garlaschelli, Katia, Manzato, Enzo, Tragni, Elena, Cefalù, Angelo B., Sabbà, Carlo, Werba, Josè Pablo, Del Ben, Maria, and Colombo, Emanuela

Subjects
0301 basic medicine, Candidate gene, Genetic testing, Settore MED/09 - Medicina Interna, Databases, Factual, DNA Mutational Analysis, Disease, Familial hypercholesterolemia, 030204 cardiovascular system & hematology, 0302 clinical medicine, Dyslipidemias, National network, Internal Medicine, Cardiology and Cardiovascular Medicine, Risk Factors, Prospective Studies, Program Development, Prospective cohort study, medicine.diagnostic_test, General Medicine, Prognosis, Cholesterol, Phenotype, Italy, Genetic Markers, medicine.medical_specialty, MEDLINE, Hyperlipoproteinemia Type II, 03 medical and health sciences, Databases, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Factual, Retrospective Studies, business.industry, Settore MED/13 - ENDOCRINOLOGIA, Retrospective cohort study, medicine.disease, Atherosclerosis, Mutation, 030104 developmental biology, Endocrinology, Dyslipidemia, Genetic marker, business
Abstract

Background and aims: Primary dyslipidemias are a heterogeneous group of disorders characterized by abnormal levels of circulating lipoproteins. Among them, familial hypercholesterolemia is the most common lipid disorder that predisposes for premature cardiovascular disease. We set up an Italian nationwide network aimed at facilitating the clinical and genetic diagnosis of genetic dyslipidemias named LIPIGEN (LIpid TransPort Disorders Italian GEnetic Network). Methods: Observational, multicenter, retrospective and prospective study involving about 40 Italian clinical centers. Genetic testing of the appropriate candidate genes at one of six molecular diagnostic laboratories serving as nationwide DNA diagnostic centers. Results and conclusions: From 2012 to October 2016, available biochemical and clinical information of 3480 subjects with familial hypercholesterolemia identified according to the Dutch Lipid Clinic Network (DLCN) score were included in the database and genetic analysis was performed in 97.8% of subjects, with a mutation detection rate of 92.0% in patients with DLCN score >= 6. The establishment of the LIPIGEN network will have important effects on clinical management and it will improve the overall identification and treatment of primary dyslipidemias in Italy. (C) 2017 The Authors. Published by Elsevier Ireland Ltd.

Published
2017

41. Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study

Author

Pirillo, Angela, Garlaschelli, Katia, Arca, Marcello, Averna, Maurizio, Bertolini, Stefano, Calandra, Sebastiano, Tarugi, Patrizia, Catapano, Alberico L., Catapano, Alberico Luigi, Pellegatta, Fabio, Angelico, Francesco, Bartuli, Andrea, Biasucci, Giacomo, Biolo, Gianni, Bonanni, Luca, Bonomo, Katia, Borghi, Claudio, Bossi, Antonio Carlo, Branchi, Adriana, Carubbi, Francesca, Cipollone, Francesco, Citroni, Nadia, Federici, Massimo, Ferri, Claudio, Fiorenza, Anna Maria, Giaccari, Andrea, Giorgino, Francesco, Guardamagna, Ornella, Iannuzzi, Arcangelo, Iughetti, Lorenzo, Lupattelli, Graziana, Mandraffino, Giuseppe, Marcucci, Rossella, Mombelli, Giuliana, Muntoni, Sandro, Pecchioli, Valerio, Pederiva, Cristina, Pipolo, Antonio, Pisciotta, Livia, Pujia, Arturo, Purrello, Francesco, Repetti, Elena, Rubba, Paolo, SabbÃ&nbsp, Carlo, Sampietro, Tiziana, Sarzani, Riccardo, Tagliabue, Milena Paola, Trenti, Chiara, Vigna, Giovanni Battista, Werba, Josà Pablo, Zambon, Sabina, Zenti, Maria Grazia, Montali, Anna, Noto, Davide, Fortunato, Giuliana, Grigore, Liliana, Del Ben, Maria, Maranghi, Marianna, Cefalã¹, A. Baldassarre, Buonuomo, Paola Sabrina, Capra, Maria Elena, Vinci, Pierandrea, D'Addato, Sergio, Galbiati, Stella, Nascimbeni, Fabio, Bucci, Marco, Spagnoli, Walter, Cardolini, Iris, Cervelli, Nazzareno, Emanuela, Colombo, Sun, Vinsin A., Laviola, Luigi, Bello, Francesca, Chiariello, Giuseppe, Predieri, Barbara, Siepi, Donatella, Saitta, Antonino, Giusti, Betti, Pavanello, Chiara, Lussu, Milena, Prati, Lucia, Banderali, Giuseppe, Balleari, Giulia, Montalcini, Tiziana, Scicali, Roberto, Gentile, Luigi, Gentile, Marco, Suppressa, Patrizia, Sbrana, Francesco, Cocci, Guido, Benso, Andrea, Negri, Emanuele Alberto, Ghirardello, Omar, Lorenzo, Vigo, Zambon, Alberto, Enzo, Bonora, Minicocci, Ilenia, Spina, Rossella, Orlando, Camilla, Di Taranto, Maria Donata, Casula, Manuela, Chiodo, Lorenzo, Manzato, Enzo, Tragni, Elena, Pirillo, Angela, Garlaschelli, Katia, Arca, Marcello, Averna, Maurizio, Bertolini, Stefano, Calandra, Sebastiano, Tarugi, Patrizia, Catapano, Alberico L., Catapano, Alberico Luigi, Pellegatta, Fabio, Angelico, Francesco, Bartuli, Andrea, Biasucci, Giacomo, Biolo, Gianni, Bonanni, Luca, Bonomo, Katia, Borghi, Claudio, Bossi, Antonio Carlo, Branchi, Adriana, Carubbi, Francesca, Cipollone, Francesco, Citroni, Nadia, Federici, Massimo, Ferri, Claudio, Fiorenza, Anna Maria, Giaccari, Andrea, Giorgino, Francesco, Guardamagna, Ornella, Iannuzzi, Arcangelo, Iughetti, Lorenzo, Lupattelli, Graziana, Mandraffino, Giuseppe, Marcucci, Rossella, Mombelli, Giuliana, Muntoni, Sandro, Pecchioli, Valerio, Pederiva, Cristina, Pipolo, Antonio, Pisciotta, Livia, Pujia, Arturo, Purrello, Francesco, Repetti, Elena, Rubba, Paolo, Sabbã , Carlo, Sampietro, Tiziana, Sarzani, Riccardo, Tagliabue, Milena Paola, Trenti, Chiara, Vigna, Giovanni Battista, Werba, Josã Pablo, Zambon, Sabina, Zenti, Maria Grazia, Montali, Anna, Noto, Davide, Fortunato, Giuliana, Grigore, Liliana, DEL BELLO, Francesca, Maranghi, Marianna, Cefalã¹, A. Baldassarre, Buonuomo, Paola Sabrina, Capra, Maria Elena, Vinci, Pierandrea, D'Addato, Sergio, Galbiati, Stella, Nascimbeni, Fabio, Bucci, Marco, Spagnoli, Walter, Cardolini, Iri, Cervelli, Nazzareno, Emanuela, Colombo, Sun, Vinsin A., Laviola, Luigi, Bello, Francesca, Chiariello, Giuseppe, Predieri, Barbara, Siepi, Donatella, Saitta, Antonino, Giusti, Betti, Pavanello, Chiara, Lussu, Milena, Prati, Lucia, Banderali, Giuseppe, Balleari, Giulia, Montalcini, Tiziana, Scicali, Roberto, Gentile, Luigi, Gentile, Marco, Suppressa, Patrizia, Sbrana, Francesco, Cocci, Guido, Benso, Andrea, Negri, Emanuele Alberto, Ghirardello, Omar, Lorenzo, Vigo, Zambon, Alberto, Enzo, Bonora, Minicocci, Ilenia, Spina, Rossella, Orlando, Camilla, Di Taranto, Maria Donata, Casula, Manuela, Chiodo, Lorenzo, Manzato, Enzo, Tragni, Elena, Sabbà, Carlo, Werba, Josè Pablo, Del Ben, Maria, Cefalù, A. Baldassarre, DI BELLO, Francesca, Pirillo, A., Garlaschelli, K., Arca, M., Averna, M., Bertolini, S., Calandra, S., Tarugi, P., Catapano, A., Pellegatta, F., Angelico, F., Bartuli, A., Biasucci, G., Biolo, G., Bonanni, L., Bonomo, K., Borghi, C., Bossi, A., Branchi, A., Carubbi, F., Cipollone, F., Citroni, N., Federici, M., Ferri, C., Fiorenza, A., Giaccari, A., Giorgino, F., Guardamagna, O., Iannuzzi, A., Iughetti, L., Lupattelli, G., Mandraffino, G., Marcucci, R., Mombelli, G., Muntoni, S., Pecchioli, V., Pederiva, C., Pipolo, A., Pisciotta, L., Pujia, A., Purrello, F., Repetti, E., Rubba, P., Sabbã , C., Sampietro, T., Sarzani, R., Tagliabue, M., Trenti, C., Vigna, G., Werba, J., Zambon, S., Zenti, M., Montali, A., Noto, D., Fortunato, G., Grigore, L., Del Ben, M., Maranghi, M., Cefalu', A., Buonuomo, P., Capra, M., Vinci, P., D'Addato, S., Galbiati, S., Nascimbeni, F., Bucci, M., Spagnoli, W., Cardolini, I., Cervelli, N., Emanuela, C., Sun, V., Laviola, L., Bello, F., Chiariello, G., Predieri, B., Siepi, D., Saitta, A., Giusti, B., Pavanello, C., Lussu, M., Prati, L., Banderali, G., Balleari, G., Montalcini, T., Scicali, R., Gentile, L., Gentile, M., Suppressa, P., Sbrana, F., Cocci, G., Benso, A., Negri, E., Ghirardello, O., Lorenzo, V., Zambon, A., Enzo, B., Minicocci, I., Spina, R., Orlando, C., Di Taranto, M., Casula, M., Chiodo, L., Manzato, E., Tragni, E., and Colombo, Emanuela

Subjects
0301 basic medicine, Apolipoprotein E, Candidate gene, Settore MED/09 - Medicina Interna, Databases, Factual, Apolipoprotein B, DNA Mutational Analysis, Familial hypercholesterolemia, 030204 cardiovascular system & hematology, Compound heterozygosity, PCSK9, 0302 clinical medicine, Risk Factors, Receptors, Genetics, Homozygote, Autosomal dominant trait, Pathogenic variants, General Medicine, Prognosis, APOB, LDLR, Cholesterol, Phenotype, Italy, Autosomal Recessive Hypercholesterolemia, Apolipoprotein B-100, lipids (amino acids, peptides, and proteins), Proprotein Convertase 9, Cardiology and Cardiovascular Medicine, Preliminary Data, Genetic Markers, Familial hypercholesterolemiaLDLRPCSK9APOBPathogenic variants, Heterozygote, Biology, Pathogenic variant, LDL, Hyperlipoproteinemia Type II, 03 medical and health sciences, Databases, medicine, Internal Medicine, Humans, Genetic Predisposition to Disease, Factual, Settore MED/13 - ENDOCRINOLOGIA, medicine.disease, Atherosclerosis, 030104 developmental biology, Receptors, LDL, Mutation, biology.protein
Abstract

Background Familial hypercholesterolemia (FH) is an autosomal dominant disease characterized by elevated plasma levels of LDL-cholesterol that confers an increased risk of premature atherosclerotic cardiovascular disease. Early identification and treatment of FH patients can improve prognosis and reduce the burden of cardiovascular mortality. Aim of this study was to perform the mutational analysis of FH patients identified through a collaboration of 20 Lipid Clinics in Italy (LIPIGEN Study). Methods We recruited 1592 individuals with a clinical diagnosis of definite or probable FH according to the Dutch Lipid Clinic Network criteria. We performed a parallel sequencing of the major candidate genes for monogenic hypercholesterolemia (LDLR, APOB, PCSK9, APOE, LDLRAP1, STAP1). Results A total of 213 variants were detected in 1076 subjects. About 90% of them had a pathogenic or likely pathogenic variants. More than 94% of patients carried pathogenic variants in LDLR gene, 27 of which were novel. Pathogenic variants in APOB and PCSK9 were exceedingly rare. We found 4 true homozygotes and 5 putative compound heterozygotes for pathogenic variants in LDLR gene, as well as 5 double heterozygotes for LDLR/APOB pathogenic variants. Two patients were homozygous for pathogenic variants in LDLRAP1 gene resulting in autosomal recessive hypercholesterolemia. One patient was found to be heterozygous for the ApoE variant p.(Leu167del), known to confer an FH phenotype. Conclusions This study shows the molecular characteristics of the FH patients identified in Italy over the last two years. Full phenotypic characterization of these patients and cascade screening of family members is now in progress.

Published
2017

42. PCSK9 deficiency rewires heart metabolism and drives heart failure with preserved ejection fraction.

Author

Dalt, Lorenzo Da, Castiglioni, Laura, Baragetti, Andrea, Audano, Matteo, Svecla, Monika, Bonacina, Fabrizia, Pedretti, Silvia, Uboldi, Patrizia, Benzoni, Patrizia, Giannetti, Federica, Barbuti, Andrea, Pellegatta, Fabio, Indino, Serena, Donetti, Elena, Sironi, Luigi, Mitro, Nico, Catapano, Alberico Luigi, and Norata, Giuseppe Danilo

Subjects
LOW density lipoproteins, BLOOD lipoproteins, HEART metabolism, HEART failure, HEART diseases
Abstract

Aims PCSK9 is secreted into the circulation, mainly by the liver, and interacts with low-density lipoprotein receptor (LDLR) homologous and non-homologous receptors, including CD36, thus favouring their intracellular degradation. As PCSK9 deficiency increases the expression of lipids and lipoprotein receptors, thus contributing to cellular lipid accumulation, we investigated whether this could affect heart metabolism and function. Methods and results Wild-type (WT), Pcsk9 KO, Liver conditional Pcsk9 KO and Pcsk9/Ldlr double KO male mice were fed for 20 weeks with a standard fat diet and then exercise resistance, muscle strength, and heart characteristics were evaluated. Pcsk9 KO presented reduced running resistance coupled to echocardiographic abnormalities suggestive of heart failure with preserved ejection fraction (HFpEF). Heart mitochondrial activity, following maximal coupled and uncoupled respiration, was reduced in Pcsk 9 KO mice compared to WT mice and was coupled to major changes in cardiac metabolism together with increased expression of LDLR and CD36 and with lipid accumulation. A similar phenotype was observed in Pcsk9/Ldlr DKO, thus excluding a contribution for LDLR to cardiac impairment observed in Pcsk9 KO mice. Heart function profiling of the liver selective Pcsk9 KO model further excluded the involvement of circulating PCSK9 in the development of HFpEF, pointing to a possible role locally produced PCSK9. Concordantly, carriers of the R46L loss-of-function variant for PCSK9 presented increased left ventricular mass but similar ejection fraction compared to matched control subjects. Conclusion PCSK9 deficiency impacts cardiac lipid metabolism in an LDLR independent manner and contributes to the development of HFpEF. [ABSTRACT FROM AUTHOR]

Published
2021
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43. Adoptive transfer of CX3CR1 transduced-T regulatory cells improves homing to the atherosclerotic plaques and dampens atherosclerosis progression.

Author

Bonacina, Fabrizia, Martini, Elisa, Svecla, Monika, Nour, Jasmine, Cremonesi, Marco, Beretta, Giangiacomo, Moregola, Annalisa, Pellegatta, Fabio, Zampoleri, Veronica, Catapano, Alberico Luigi, Kallikourdis, Marinos, and Norata, Giuseppe Danilo

Subjects
ATHEROSCLEROTIC plaque, ATHEROSCLEROSIS, WESTERN diet, HIGH cholesterol diet, REGULATORY T cells, MUSCLE cells, SMOOTH muscle
Abstract

Aim Loss of immunosuppressive response supports inflammation during atherosclerosis. We tested whether adoptive cell therapy (ACT) with Tregulatory cells (Tregs), engineered to selectively migrate in the atherosclerotic plaque, would dampen the immune-inflammatory response in the arterial wall in animal models of familial hypercholesterolaemia (FH). Methods and results FH patients presented a decreased Treg suppressive function associated to an increased inflammatory burden. A similar phenotype was observed in Ldlr −/− mice accompanied by a selective increased expression of the chemokine CX3CL1 in the aorta but not in other districts (lymph nodes, spleen, and liver). Treg overexpressing CX3CR1 were thus generated (CX3CR1+-Tregs) to drive Tregs selectively to the plaque. CX3CR1+-Tregs were injected (i.v.) in Ldlr −/− fed high-cholesterol diet (western type diet, WTD) for 8 weeks. CX3CR1+-Tregs were detected in the aorta, but not in other tissues, of Ldlr −/− mice 24 h after ACT, corroborating the efficacy of this approach. After 4 additional weeks of WTD, ACT with CX3CR1+-Tregs resulted in reduced plaque progression and lipid deposition, ameliorated plaque stability by increasing collagen and smooth muscle cells content, while decreasing the number of pro-inflammatory macrophages. Shotgun proteomics of the aorta showed a metabolic rewiring in CX3CR1+-Tregs treated Ldlr −/− mice compared to controls that was associated with the improvement of inflammation-resolving pathways and disease progression. Conclusion ACT with vasculotropic Tregs appears as a promising strategy to selectively target immune activation in the atherosclerotic plaque. [ABSTRACT FROM AUTHOR]

Published
2021
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45. Single systemic transfer of a human gene associated with exceptional longevity halts the progression of atherosclerosis and inflammation in ApoE knockout mice through a CXCR4-mediated mechanism

Author

Puca, Annibale Alessandro, primary, Carrizzo, Albino, additional, Spinelli, Chiara, additional, Damato, Antonio, additional, Ambrosio, Mariateresa, additional, Villa, Francesco, additional, Ferrario, Anna, additional, Maciag, Anna, additional, Fornai, Francesco, additional, Lenzi, Paola, additional, Valenti, Valentina, additional, di Nonno, Flavio, additional, Accarino, Giulio, additional, Madonna, Michele, additional, Forte, Maurizio, additional, Calì, Gaetano, additional, Baragetti, Andrea, additional, Norata, Giuseppe Danilo, additional, Catapano, Alberico Luigi, additional, Cattaneo, Monica, additional, Izzo, Raffaele, additional, Trimarco, Valentina, additional, Montella, Francesco, additional, Versaci, Francesco, additional, Auricchio, Alberto, additional, Frati, Giacomo, additional, Sciarretta, Sebastiano, additional, Madeddu, Paolo, additional, Ciaglia, Elena, additional, and Vecchione, Carmine, additional

Published
2019
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46. Pentraxin 3 deficiency protects from the metabolic inflammation associated to diet-induced obesity

Author

Bonacina, Fabrizia, primary, Moregola, Annalisa, additional, Porte, Rémi, additional, Baragetti, Andrea, additional, Bonavita, Eduardo, additional, Salatin, Alice, additional, Grigore, Liliana, additional, Pellegatta, Fabio, additional, Molgora, Martina, additional, Sironi, Marina, additional, Barbati, Elisa, additional, Mantovani, Alberto, additional, Bottazzi, Barbara, additional, Catapano, Alberico Luigi, additional, Garlanda, Cecilia, additional, and Norata, Giuseppe Danilo, additional

Published
2019
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48. Impact of protein glycosylation on lipoprotein metabolism and atherosclerosis.

Author

Pirillo, Angela, Svecla, Monika, Catapano, Alberico Luigi, Holleboom, Adriaan G, and Norata, Giuseppe Danilo

Subjects
GLYCOSYLATION, ATHEROSCLEROSIS, LIPOPROTEIN receptors, POST-translational modification, METABOLIC regulation, AMINO acid sequence, APOLIPOPROTEIN E4
Abstract

Protein glycosylation is a post-translational modification consisting in the enzymatic attachment of carbohydrate chains to specific residues of the protein sequence. Several types of glycosylation have been described, with N -glycosylation and O -glycosylation being the most common types impacting on crucial biological processes, such as protein synthesis, trafficking, localization, and function. Genetic defects in genes involved in protein glycosylation may result in altered production and activity of several proteins, with a broad range of clinical manifestations, including dyslipidaemia and atherosclerosis. A large number of apolipoproteins, lipoprotein receptors, and other proteins involved in lipoprotein metabolism are glycosylated, and alterations in their glycosylation profile are associated with changes in their expression and/or function. Rare genetic diseases and population genetics have provided additional information linking protein glycosylation to the regulation of lipoprotein metabolism. [ABSTRACT FROM AUTHOR]

Published
2021
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49. Single systemic transfer of a human gene associated with exceptional longevity halts the progression of atherosclerosis and inflammation in ApoE knockout mice through a CXCR4-mediated mechanism.

Author

Puca, Annibale Alessandro, Carrizzo, Albino, Spinelli, Chiara, Damato, Antonio, Ambrosio, Mariateresa, Villa, Francesco, Ferrario, Anna, Maciag, Anna, Fornai, Francesco, Lenzi, Paola, Valenti, Valentina, Nonno, Flavio di, Accarino, Giulio, Madonna, Michele, Forte, Maurizio, Calì, Gaetano, Baragetti, Andrea, Norata, Giuseppe Danilo, Catapano, Alberico Luigi, and Cattaneo, Monica

Abstract

Aims Here, we aimed to determine the therapeutic effect of longevity-associated variant (LAV)-BPIFB4 gene therapy on atherosclerosis. Methods and results ApoE knockout mice (ApoE−/−) fed a high-fat diet were randomly allocated to receive LAV-BPIFB4 , wild-type (WT)- BPIFB4 , or empty vector via adeno-associated viral vector injection. The primary endpoints of the study were to assess (i) vascular reactivity and (ii) atherosclerotic disease severity, by Echo-Doppler imaging, histology and ultrastructural analysis. Moreover, we assessed the capacity of the LAV-BPIFB4 protein to shift monocyte-derived macrophages of atherosclerotic mice and patients towards an anti-inflammatory phenotype. LAV-BPIFB4 gene therapy rescued endothelial function of mesenteric and femoral arteries from ApoE−/− mice; this effect was blunted by AMD3100, a CXC chemokine receptor type 4 (CXCR4) inhibitor. LAV - BPIFB4 -treated mice showed a CXCR4-mediated shift in the balance between Ly6Chigh/Ly6Clow monocytes and M2/M1 macrophages, along with decreased T cell proliferation and elevated circulating levels of interleukins IL-23 and IL-27. In vitro conditioning with LAV-BPIFB4 protein of macrophages from atherosclerotic patients resulted in a CXCR4-dependent M2 polarization phenotype. Furthermore, LAV-BPIFB4 treatment of arteries explanted from atherosclerotic patients increased the release of atheroprotective IL-33, while inhibiting the release of pro-inflammatory IL-1β, inducing endothelial nitric oxide synthase phosphorylation and restoring endothelial function. Finally, significantly lower plasma BPIFB4 was detected in patients with pathological carotid stenosis (>25%) and intima media thickness >2 mm. Conclusion Transfer of the LAV of BPIFB4 reduces the atherogenic process and skews macrophages towards an M2-resolving phenotype through modulation of CXCR4, thus opening up novel therapeutic possibilities in cardiovascular disease. Open in new tab Download slide Open in new tab Download slide [ABSTRACT FROM AUTHOR]

Published
2020
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