CINECA IRIS Institutional Research Information System
IRIS è il sistema di gestione integrata dei dati della ricerca (persone, progetti, pubblicazioni, attività) adottato dall'Università degli Studi di Torino.
AperTO è l'archivio istituzionale Open Access destinato a raccogliere, rendere visibile e conservare la produzione scientifica dell'Università degli Studi di Torino.
EnglishRecent studies showed that TAR DNA-binding protein 43 (TDP-43), encoded by the TARDBP gene, is a major pathological protein in both sporadic and familial frontotemporal lobar degeneration (FTLD). The aim of this study was to search for mutations of the TARDBP gene in the disease. Methods: We sequenced the TARDBP gene in 172 unrelated FTLD patients recruited from 2 Italian memory clinics. Results: We identified 3 different variants of the TARDBP gene in 12 FTLD patients. Three patients showed a silent variant, Ala66Ala (c.332T --> C) in exon 2. A novel heterozygous mutation was found in intron 4 (c.543 + 51A --> G) in 1 patient, which is not located at the splicing site. Finally, a c.208C --> T variant in the 3' untranslated region was detected in 8 probands. None of the aforementioned variants were predicted to affect TDP-43. Hence, pathogenic mutations were not identified in any of the FTLD cases. Conclusion: Our study, in accord with previous studies in different populations, found no evidence for a major genetic role of the TARDBP gene in FTLD.
| Titolo: | Absence of TARDBP Gene Mutations in an Italian Series of Patients with Frontotemporal Lobar Degeneration | |
| Autori Riconosciuti: | ||
| Autori: | Salvatore Gallone; Maria Teresa Giordana; Elio Scarpini; Innocenzo Rainero; Elisa Rubino; Pierpaola Fenoglio; Daniela Galimberti; Silvia Grifoni; Eliana Venturelli; Pier Luigi Acutis; Silvia Peletto; Maria Grazia Maniaci; Patrizia Ferrero; Michela Zotta; Lorenzo Pinessi | |
| Data di pubblicazione: | 2009 | |
| Abstract: | Recent studies showed that TAR DNA-binding protein 43 (TDP-43), encoded by the TARDBP gene, is a major pathological protein in both sporadic and familial frontotemporal lobar degeneration (FTLD). The aim of this study was to search for mutations of the TARDBP gene in the disease. Methods: We sequenced the TARDBP gene in 172 unrelated FTLD patients recruited from 2 Italian memory clinics. Results: We identified 3 different variants of the TARDBP gene in 12 FTLD patients. Three patients showed a silent variant, Ala66Ala (c.332T --> C) in exon 2. A novel heterozygous mutation was found in intron 4 (c.543 + 51A --> G) in 1 patient, which is not located at the splicing site. Finally, a c.208C --> T variant in the 3' untranslated region was detected in 8 probands. None of the aforementioned variants were predicted to affect TDP-43. Hence, pathogenic mutations were not identified in any of the FTLD cases. Conclusion: Our study, in accord with previous studies in different populations, found no evidence for a major genetic role of the TARDBP gene in FTLD. | |
| Volume: | 28 | |
| Fascicolo: | 3 | |
| Pagina iniziale: | 239 | |
| Pagina finale: | 243 | |
| Digital Object Identifier (DOI): | 10.1159/000241876 | |
| URL: | http://dx.doi.org/10.1159/000241876 | |
| Parole Chiave: | TDP-43; genetics; FTLD | |
| Rivista: | DEMENTIA AND GERIATRIC COGNITIVE DISORDERS | |
| Appare nelle tipologie: | 03A-Articolo su Rivista |
File in questo prodotto:
| File | Descrizione | Tipologia | Licenza | |
|---|---|---|---|---|
| TARDBP mutations.pdf | POSTPRINT (VERSIONE FINALE DELL’AUTORE) | Accesso riservato | Utenti riconosciuti Richiedi una copia |
Copyright © 2022