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4. Estrogens Modulate Somatostatin Receptors Expression and Synergize With the Somatostatin Analog Pasireotide in Prostate Cells.

Author

Rossi, Valentina, Di Zazzo, Erika, Galasso, Giovanni, De Rosa, Caterina, Abbondanza, Ciro, Sinisi, Antonio A., Altucci, Lucia, Migliaccio, Antimo, and Castoria, Gabriella

Subjects
ANDROGEN receptors, CELL migration, CELL motility, ESTRADIOL, PROSTATE diseases
Abstract

Prostate cancer (PC) is one of the most frequently diagnosed cancers and a leading cause of cancer-related deaths in Western society. Current PC therapies prevalently target the functions of androgen receptor (AR) and may only be effective within short time periods, beyond which the majority of PC patients progress to castration-resistant PC (CRPC) and metastatic disease. The role of estradiol/estradiol receptor (ER) axis in prostate transformation and PC progression is well established. Further, considerable efforts have been made to investigate the mechanism by which somatostatin (SST) and somatostatin receptors (SSTRs) influence PC growth and progression. A number of therapeutic strategies, such as the combination of SST analogs with other drugs, show, indeed, strong promise. However, the effect of the combined treatment of SST analogs and estradiol on proliferation, epithelial mesenchyme transition (EMT) and migration of normal- and cancer-derived prostate cells has not been investigated so far. We now report that estradiol plays anti-proliferative and pro-apoptotic effect in non-transformed EPN prostate cells, which express both ERα and ERβ. A weak apoptotic effect is observed in transformed CPEC cells that only express low levels of ERβ. Estradiol increases, mainly through ERα activation, the expression of SSTRs in EPN, but not CPEC cells. As such, the hormone enhances the anti-proliferative effect of the SST analog, pasireotide in EPN, but not CPEC cells. Estradiol does not induce EMT and the motility of EPN cells, while it promotes EMT and migration of CPEC cells. Addition of pasireotide does not significantly modify these responses. Altogether, our results suggest that pasireotide may be used, alone or in combination with other drugs, to limit the growth of prostate proliferative diseases, provided that both ER isoforms (α and β) are present. Further investigations are needed to better define the cross talk between estrogens and SSTRs as well as its role in PC. [ABSTRACT FROM AUTHOR]

Published
2024
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5. Multiple Sclerosis: From the Application of Oligoclonal Bands to Novel Potential Biomarkers.

Author

Maglio, Grazia, D'Agostino, Marina, Caronte, Francesco Pio, Pezone, Luciano, Casamassimi, Amelia, Rienzo, Monica, Di Zazzo, Erika, Nappo, Carmela, Medici, Nicola, Molinari, Anna Maria, and Abbondanza, Ciro

Subjects
IMMUNOGLOBULIN light chains, MULTIPLE sclerosis, CEREBROSPINAL fluid examination, CEREBROSPINAL fluid, BIOMARKERS, CENTRAL nervous system, NATALIZUMAB
Abstract

Multiple sclerosis is a chronic immune-mediated disorder of the central nervous system with a high heterogeneity among patients. In the clinical setting, one of the main challenges is a proper and early diagnosis for the prediction of disease activity. Current diagnosis is based on the integration of clinical, imaging, and laboratory results, with the latter based on the presence of intrathecal IgG oligoclonal bands in the cerebrospinal fluid whose detection via isoelectric focusing followed by immunoblotting represents the gold standard. Intrathecal synthesis can also be evidenced by the measurement of kappa free light chains in the cerebrospinal fluid, which has reached similar diagnostic accuracy compared to that of oligoclonal bands in the identification of patients with multiple sclerosis; moreover, recent studies have also highlighted its value for early disease activity prediction. This strategy has significant advantages as compared to using oligoclonal band detection, even though some issues remain open. Here, we discuss the current methods applied for cerebrospinal fluid analysis to achieve the most accurate diagnosis and for follow-up and prognosis evaluation. In addition, we describe new promising biomarkers, currently under investigation, that could contribute both to a better diagnosis of multiple sclerosis and to its monitoring of the therapeutic treatment response. [ABSTRACT FROM AUTHOR]

Published
2024
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8. Supplementary Table 2 from c-Myc Modulation and Acetylation Is a Key HDAC Inhibitor Target in Cancer

Author

Nebbioso, Angela, primary, Carafa, Vincenzo, primary, Conte, Mariarosaria, primary, Tambaro, Francesco Paolo, primary, Abbondanza, Ciro, primary, Martens, Joost, primary, Nees, Matthias, primary, Benedetti, Rosaria, primary, Pallavicini, Isabella, primary, Minucci, Saverio, primary, Garcia-Manero, Guillermo, primary, Iovino, Francesco, primary, Lania, Gabriella, primary, Ingenito, Concetta, primary, Belsito Petrizzi, Valeria, primary, Stunnenberg, Hendrik G., primary, and Altucci, Lucia, primary

Published
2023
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9. Supplementary Figure 3 from c-Myc Modulation and Acetylation Is a Key HDAC Inhibitor Target in Cancer

Author

Nebbioso, Angela, primary, Carafa, Vincenzo, primary, Conte, Mariarosaria, primary, Tambaro, Francesco Paolo, primary, Abbondanza, Ciro, primary, Martens, Joost, primary, Nees, Matthias, primary, Benedetti, Rosaria, primary, Pallavicini, Isabella, primary, Minucci, Saverio, primary, Garcia-Manero, Guillermo, primary, Iovino, Francesco, primary, Lania, Gabriella, primary, Ingenito, Concetta, primary, Belsito Petrizzi, Valeria, primary, Stunnenberg, Hendrik G., primary, and Altucci, Lucia, primary

Published
2023
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10. Supplementary Figure 5 from c-Myc Modulation and Acetylation Is a Key HDAC Inhibitor Target in Cancer

Author

Nebbioso, Angela, primary, Carafa, Vincenzo, primary, Conte, Mariarosaria, primary, Tambaro, Francesco Paolo, primary, Abbondanza, Ciro, primary, Martens, Joost, primary, Nees, Matthias, primary, Benedetti, Rosaria, primary, Pallavicini, Isabella, primary, Minucci, Saverio, primary, Garcia-Manero, Guillermo, primary, Iovino, Francesco, primary, Lania, Gabriella, primary, Ingenito, Concetta, primary, Belsito Petrizzi, Valeria, primary, Stunnenberg, Hendrik G., primary, and Altucci, Lucia, primary

Published
2023
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11. Suppl. Methods from c-Myc Modulation and Acetylation Is a Key HDAC Inhibitor Target in Cancer

Author

Nebbioso, Angela, primary, Carafa, Vincenzo, primary, Conte, Mariarosaria, primary, Tambaro, Francesco Paolo, primary, Abbondanza, Ciro, primary, Martens, Joost, primary, Nees, Matthias, primary, Benedetti, Rosaria, primary, Pallavicini, Isabella, primary, Minucci, Saverio, primary, Garcia-Manero, Guillermo, primary, Iovino, Francesco, primary, Lania, Gabriella, primary, Ingenito, Concetta, primary, Belsito Petrizzi, Valeria, primary, Stunnenberg, Hendrik G., primary, and Altucci, Lucia, primary

Published
2023
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12. Supplementary Figure 1 from c-Myc Modulation and Acetylation Is a Key HDAC Inhibitor Target in Cancer

Author

Nebbioso, Angela, primary, Carafa, Vincenzo, primary, Conte, Mariarosaria, primary, Tambaro, Francesco Paolo, primary, Abbondanza, Ciro, primary, Martens, Joost, primary, Nees, Matthias, primary, Benedetti, Rosaria, primary, Pallavicini, Isabella, primary, Minucci, Saverio, primary, Garcia-Manero, Guillermo, primary, Iovino, Francesco, primary, Lania, Gabriella, primary, Ingenito, Concetta, primary, Belsito Petrizzi, Valeria, primary, Stunnenberg, Hendrik G., primary, and Altucci, Lucia, primary

Published
2023
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13. Supplementary Figure 2 from c-Myc Modulation and Acetylation Is a Key HDAC Inhibitor Target in Cancer

Author

Nebbioso, Angela, primary, Carafa, Vincenzo, primary, Conte, Mariarosaria, primary, Tambaro, Francesco Paolo, primary, Abbondanza, Ciro, primary, Martens, Joost, primary, Nees, Matthias, primary, Benedetti, Rosaria, primary, Pallavicini, Isabella, primary, Minucci, Saverio, primary, Garcia-Manero, Guillermo, primary, Iovino, Francesco, primary, Lania, Gabriella, primary, Ingenito, Concetta, primary, Belsito Petrizzi, Valeria, primary, Stunnenberg, Hendrik G., primary, and Altucci, Lucia, primary

Published
2023
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14. Supplementary Figure 8 from c-Myc Modulation and Acetylation Is a Key HDAC Inhibitor Target in Cancer

Author

Nebbioso, Angela, primary, Carafa, Vincenzo, primary, Conte, Mariarosaria, primary, Tambaro, Francesco Paolo, primary, Abbondanza, Ciro, primary, Martens, Joost, primary, Nees, Matthias, primary, Benedetti, Rosaria, primary, Pallavicini, Isabella, primary, Minucci, Saverio, primary, Garcia-Manero, Guillermo, primary, Iovino, Francesco, primary, Lania, Gabriella, primary, Ingenito, Concetta, primary, Belsito Petrizzi, Valeria, primary, Stunnenberg, Hendrik G., primary, and Altucci, Lucia, primary

Published
2023
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15. Supplementary Figure 4 from c-Myc Modulation and Acetylation Is a Key HDAC Inhibitor Target in Cancer

Author

Nebbioso, Angela, primary, Carafa, Vincenzo, primary, Conte, Mariarosaria, primary, Tambaro, Francesco Paolo, primary, Abbondanza, Ciro, primary, Martens, Joost, primary, Nees, Matthias, primary, Benedetti, Rosaria, primary, Pallavicini, Isabella, primary, Minucci, Saverio, primary, Garcia-Manero, Guillermo, primary, Iovino, Francesco, primary, Lania, Gabriella, primary, Ingenito, Concetta, primary, Belsito Petrizzi, Valeria, primary, Stunnenberg, Hendrik G., primary, and Altucci, Lucia, primary

Published
2023
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16. Supplementary Table 1 from c-Myc Modulation and Acetylation Is a Key HDAC Inhibitor Target in Cancer

Author

Nebbioso, Angela, primary, Carafa, Vincenzo, primary, Conte, Mariarosaria, primary, Tambaro, Francesco Paolo, primary, Abbondanza, Ciro, primary, Martens, Joost, primary, Nees, Matthias, primary, Benedetti, Rosaria, primary, Pallavicini, Isabella, primary, Minucci, Saverio, primary, Garcia-Manero, Guillermo, primary, Iovino, Francesco, primary, Lania, Gabriella, primary, Ingenito, Concetta, primary, Belsito Petrizzi, Valeria, primary, Stunnenberg, Hendrik G., primary, and Altucci, Lucia, primary

Published
2023
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17. Supplementary Figure 6 from c-Myc Modulation and Acetylation Is a Key HDAC Inhibitor Target in Cancer

Author

Nebbioso, Angela, primary, Carafa, Vincenzo, primary, Conte, Mariarosaria, primary, Tambaro, Francesco Paolo, primary, Abbondanza, Ciro, primary, Martens, Joost, primary, Nees, Matthias, primary, Benedetti, Rosaria, primary, Pallavicini, Isabella, primary, Minucci, Saverio, primary, Garcia-Manero, Guillermo, primary, Iovino, Francesco, primary, Lania, Gabriella, primary, Ingenito, Concetta, primary, Belsito Petrizzi, Valeria, primary, Stunnenberg, Hendrik G., primary, and Altucci, Lucia, primary

Published
2023
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18. Supplementary Figure 7 from c-Myc Modulation and Acetylation Is a Key HDAC Inhibitor Target in Cancer

Author

Nebbioso, Angela, primary, Carafa, Vincenzo, primary, Conte, Mariarosaria, primary, Tambaro, Francesco Paolo, primary, Abbondanza, Ciro, primary, Martens, Joost, primary, Nees, Matthias, primary, Benedetti, Rosaria, primary, Pallavicini, Isabella, primary, Minucci, Saverio, primary, Garcia-Manero, Guillermo, primary, Iovino, Francesco, primary, Lania, Gabriella, primary, Ingenito, Concetta, primary, Belsito Petrizzi, Valeria, primary, Stunnenberg, Hendrik G., primary, and Altucci, Lucia, primary

Published
2023
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20. Does Gut-breast Microbiota Axis Orchestrates Cancer Progression?

Author

Ballini, Andrea, primary, Santacroce, Luigi, primary, Marino, Maria Michela, additional, Nastri, Bianca Maria, additional, D’Agostino, Marina, additional, Risolo, Rossella, additional, De Angelis, Alessandra, additional, Settembre, Giuliana, additional, Rienzo, Monica, additional, D’Esposito, Vittoria, additional, Abbondanza, Ciro, additional, Formisano, Pietro, additional, Boccellino, Mariarosaria, additional, and Di Domenico, Marina, additional

Published
2022
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21. Regulation of p53 Function in Normal and Malignant Cells

Author

Tortora, Vincenzo, Bontempo, Paola, Verdicchio, Mariantonietta, Armetta, Ignazio, Abbondanza, Ciro, Schiavone, Ettore Maria, Nola, Ernesto, Puca, Giovanni Alfredo, Molinari, Anna Maria, Zappia, Vincenzo, editor, Della Ragione, Fulvio, editor, Barbarisi, Alfonso, editor, Russo, Gian Luigi, editor, and Iacovo, Rossano Dello, editor

Published
1999
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22. Corrigendum: Estrogens modulate somatostatin receptors expression and synergize with the somatostatin analog pasireotide in prostate cells.

Author

Rossi, Valentina, Di Zazzo, Erika, Galasso, Giovanni, De Rosa, Caterina, Abbondanza, Ciro, Sinisi, Antonio A., Altucci, Lucia, Migliaccio, Antimo, and Castoria, Gabriella

Subjects
CYTARABINE, CELL motility, SOMATOSTATIN, PROSTATE cancer, SCHOLARLY periodical corrections
Abstract

The correction notice in the journal "Frontiers in Pharmacology" addresses an error in Figure 5 of the article "Estrogens modulate somatostatin receptors expression and synergize with the somatostatin analog pasireotide in prostate cells." The error involved the inclusion of two different pictures in Figure 5C, which has been rectified to only show an image from cells treated with E2+pas. The authors acknowledge the mistake but clarify that it does not impact the scientific conclusions of the study. The original article has been updated accordingly. [Extracted from the article]

Published
2024
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23. Detrimental Effects of Bartonella henselae Are Counteracted by L-Arginine and Nitric Oxide in Human Endothelial Progenitor Cells

Author

Salvatore, Paola, Casamassimi, Amelia, Sommese, Linda, Fiorito, Carmela, Ciccodicola, Alfredo, Rossiello, Raffaele, Avallone, Bice, Grimaldi, Vincenzo, Costa, Valerio, Rienzo, Monica, Colicchio, Roberta, Williams-Ignarro, Sharon, Pagliarulo, Caterina, Prudente, Maria Evelina, Abbondanza, Ciro, Lamberti, Florentia, Baroni, Adone, Buommino, Elisabetta, Farzati, Bartolomeo, Tufano, Maria Antonietta, Ignarro, Louis Joseph, and Napoli, Claudio

Published
2008
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25. Searching for a putative mechanism of tumor-promoting function of RIZ2 in cancer models

Author

Rienzo Monica, Sorrentino Anna, Di Zazzo Erika, Di Donato Marzia, Carafa Vincenzo, Marino Maria Michela, De Rosa Caterina, Gazzerro Patrizia, Castoria Gabriella, Altucci Lucia, Casamassimi Amelia, Abbondanza Ciro, Rienzo, Monica, Sorrentino, Anna, Di Zazzo, Erika, DI DONATO, Marzia, Carafa, Vincenzo, Marino Maria, Michela, De Rosa, Caterina, Gazzerro, Patrizia, Castoria, Gabriella, Altucci, Lucia, Casamassimi, Amelia, and Abbondanza, Ciro

Abstract

Positive Regulatory Domain (PRDM) gene family members commonly express two main molecular variants, the PR-plus isoform usually acting as tumor suppressor and the PR-minus one functioning as oncogene. Accordingly, PRDM2/RIZ encodes for RIZ1 (PR-plus) and RIZ2 (PR-minus). In human cancers, genetic or epigenetic modifications induce RIZ1 silencing with an expression level imbalance in favor of RIZ2 that could be relevant for tumorigenesis. Additionally, in estrogen target cells and tissues, estradiol increases RIZ2 expression level with concurrent increase of cell proliferation and survival. Several attempts to study RIZ2 function in HeLa or MCF-7 cells by its over-expression were unsuccessful. Thus, we over-expressed RIZ2 in HEK-293 cells, which are both RIZ1 and RIZ2 positive but unresponsive to estrogens. The forced RIZ2 expression increased cell viability and growth, prompted the G2-to-M phase transition and organoids formation. Accordingly, microarray analysis revealed that RIZ2 regulates several genes involved in mitosis. Consistently, RIZ silencing in both estrogen-responsive MCF-7 and –unresponsive MDA-MB-231 cells induced a reduction of cell proliferation and an increase of apoptosis rate. Our findings add novel insights on the putative RIZ2 tumor-promoting functions, although additional attempts are warranted to depict the underlying molecular mechanism.

Published
2021

28. PRDM12 in Health and Diseases

Author

Rienzo, Monica, primary, Di Zazzo, Erika, additional, Casamassimi, Amelia, additional, Gazzerro, Patrizia, additional, Perini, Giovanni, additional, Bifulco, Maurizio, additional, and Abbondanza, Ciro, additional

Published
2021
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34. Searching for a Putative Mechanism of RIZ2 Tumor-Promoting Function in Cancer Models

Author

Rienzo, Monica, primary, Sorrentino, Anna, additional, Di Zazzo, Erika, additional, Di Donato, Marzia, additional, Carafa, Vincenzo, additional, Marino, Maria Michela, additional, De Rosa, Caterina, additional, Gazzerro, Patrizia, additional, Castoria, Gabriella, additional, Altucci, Lucia, additional, Casamassimi, Amelia, additional, and Abbondanza, Ciro, additional

Published
2021
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35. Immunità innata: le prime linee di difesa

Author

ABBONDANZA, Ciro, MEDICI N., Fujita, T, Stappenbeck,T, Tenner, AJ, Locati, Massimo, Mainiero, Fabrizio, Abbondanza, Ciro, Medici, Nicola, MURPHY KENNETH, and Medici, N.

Abstract

Il testo Immunobiologia di Janeway è stato pensato per gli studenti dei corsi universitari, ma è così completo da essere adeguato anche come testo di riferimento per specializzandi e per gli stessi medici che praticano l’immunologia. Pur addentrandosi nel mondo della microbiologia, è chiaramente focalizzato sullo studio dell’immunologia e dei suoi principali eventi immunopatologici, quali le reazioni autoimmunitarie, le immunodeficienze, i trapianti e l’immunologia dei tumori. Questa nona edizione è stata completamente riorganizzata ed aggiornata e contiene più di cento immagini nuove. Nell’Appendice I, il Toolbox degli immunologi ha subito una totale rivisitazione, con l’aggiunta di nuove tecniche, tra cui il sistema CRISPR/Cas9 e tecniche di spettrometria di massa e di proteomica. Inoltre è stato creato un elenco di domande che serviranno agli studenti per riflettere attentamente e sintetizzare le conoscenze apprese in ogni capitolo e per preparare al meglio gli esami.

Published
2019

36. Multifaceted Role of PRDM Proteins in Human Cancer

Author

Casamassimi, Amelia, primary, Rienzo, Monica, additional, Di Zazzo, Erika, additional, Sorrentino, Anna, additional, Fiore, Donatella, additional, Proto, Maria Chiara, additional, Moncharmont, Bruno, additional, Gazzerro, Patrizia, additional, Bifulco, Maurizio, additional, and Abbondanza, Ciro, additional

Published
2020
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37. Therapeutic targeting of the stem cell niche in experimental hindlimb ischemia

Author

Napoli, Claudio, Williams-Ignarro, Sharon, Byrns, Russell, Balestrieri, Maria Luisa, Crimi, Ettore, Farzati, Bartolomeo, Mancini, Francesco P, de Nigris, Filomena, Matarazzo, Angelo, Amora, Maurizio D, Abbondanza, Ciro, Fiorito, Carmela, Giovane, Alfonso, Florio, Anna, Varricchio, Ettore, Palagiano, Antonio, Minucci, Pellegrino Biagio, Tecce, Mario Felice, Giordano, Antonio, Pavan, Antonio, and Ignarro, Louis J

Published
2008
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40. Regulation of p53 Function in Normal and Malignant Cells

Author

Tortora, Vincenzo, primary, Bontempo, Paola, additional, Verdicchio, Mariantonietta, additional, Armetta, Ignazio, additional, Abbondanza, Ciro, additional, Schiavone, Ettore Maria, additional, Nola, Ernesto, additional, Puca, Giovanni Alfredo, additional, and Molinari, Anna Maria, additional

Published
1999
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47. c-Myc Modulation and Acetylation Is a Key HDAC Inhibitor Target in Cancer

Author

Nebbioso, Angela, primary, Carafa, Vincenzo, additional, Conte, Mariarosaria, additional, Tambaro, Francesco Paolo, additional, Abbondanza, Ciro, additional, Martens, Joost, additional, Nees, Matthias, additional, Benedetti, Rosaria, additional, Pallavicini, Isabella, additional, Minucci, Saverio, additional, Garcia-Manero, Guillermo, additional, Iovino, Francesco, additional, Lania, Gabriella, additional, Ingenito, Concetta, additional, Belsito Petrizzi, Valeria, additional, Stunnenberg, Hendrik G., additional, and Altucci, Lucia, additional

Published
2017
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49. Clinical features of a new acid-labile subunit (IGFALS) heterozygous mutation: anthropometric and biochemical characterization and response to growth hormone administration

Author

GRANDONE, Anna, MIRAGLIA DEL GIUDICE, Emanuele, Cirillo G, ABBONDANZA, Ciro, CIOFFI, Michele, Romano T, Micillo F, Marzuillo P, PERRONE, Laura, Grandone, Anna, MIRAGLIA DEL GIUDICE, Emanuele, Cirillo, G, Abbondanza, Ciro, Cioffi, Michele, Romano, T, Micillo, F, Marzuillo, P, and Perrone, Laura

Subjects
Heterozygote, Endocrinology, Diabetes and Metabolism, Dwarfism, Endocrinology, Child Development, Growth hormone treatment, Humans, Body Weights and Measures, Child, Children, GH and growth factor, Glycoproteins, Human Growth Hormone, Medicine (all), Body Weights and Measure, Pedigree, Short stature, Treatment Outcome, Pediatrics, Perinatology and Child Health, Mutation, Female, Acid-labile subunit, Glycoprotein, Carrier Protein, Carrier Proteins, Human
Abstract

Background: Homozygous mutations in acid-labile subunit (IGFALS) gene result in short stature, very low circulating levels of acid-labile subunit (ALS), insulin growth factor 1 (IGF1) and insulin growth factor binding protein 3 (IGFBP3) and a poor response to growth hormone (GH). The impact of IGFALS mutations heterozygosity on growth is unknown. Patient and Methods: We describe a 10-year-old girl with severe short stature (height -3.2 SDS), heterozygous for a new IGFALS mutation. Results: The girl showed low circulating IGF1, IGFBP3 and ALS levels and normal GH secretion. We found a novel heterozygous frameshift IGFALS mutation (c.1283delA, p.Gln428Argfs*14). Size-exclusion chromatography showed a reduction of the IGF1, IGFBP3 and ALS 150-kDa ternary complex (by about 55%) compared to a control. An IGF-1 generation test, with two different GH dosages, showed a good response in term of increase in IGF1 and in formation of the ternary complex at size-exclusion chromatography. Clinical response after 6 months of therapy with GH was satisfactory (height velocity increased from 3 to 8 cm/year). Conclusion: We suggest that (1) heterozygous IGFALS mutations can be responsible for a subset of patients with severe short stature (below -2.5 SDS), low IGF1 (below -2 SDS) and normal GH secretion, and (2) the identification by IGFALS molecular screening of this subset of patients could help in the administration of the appropriate therapy. Background: Homozygous mutations in acid-labile subunit (IGFALS) gene result in short stature, very low circulating levels of acid-labile subunit (ALS), insulin growth factor 1 (IGF1) and insulin growth factor binding protein 3 (IGFBP3) and a poor response to growth hormone (GH). The impact of IGFALS mutations heterozygosity on growth is unknown. Patient and Methods: We describe a 10-year-old girl with severe short stature (height -3.2 SDS), heterozygous for a new IGFALS mutation. Results: The girl showed low circulating IGF1, IGFBP3 and ALS levels and normal GH secretion. We found a novel heterozygous frameshift IGFALS mutation (c.1283delA, p.Gln428Argfs*14). Size-exclusion chromatography showed a reduction of the IGF1, IGFBP3 and ALS 150-kDa ternary complex (by about 55%) compared to a control. An IGF-1 generation test, with two different GH dosages, showed a good response in term of increase in IGF1 and in formation of the ternary complex at size-exclusion chromatography. Clinical response after 6 months of therapy with GH was satisfactory (height velocity increased from 3 to 8 cm/year). Conclusion: We suggest that (1) heterozygous IGFALS mutations can be responsible for a subset of patients with severe short stature (below -2.5 SDS), low IGF1 (below -2 SDS) and normal GH secretion, and (2) the identification by IGFALS molecular screening of this subset of patients could help in the administration of the appropriate therapy. © 2013 S. Karger AG, Basel.

Published
2013

50. Immunità Innata

Author

ABBONDANZA, Ciro, Silvano Sozzani, and Abbondanza, Ciro

Published
2013

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