Background/Aim: 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.
Absence of TARDBP Gene Mutations in an Italian Series of Patients with Frontotemporal Lobar Degeneration / S. Gallone, M.T. Giordana, E.A. Scarpini, I. Rainero, E. Rubino, P. Fenoglio, D. Galimberti, S. Grifoni, E. Venturelli, P.L. Acutis, S. Peletto, M.G. Maniaci, P. Ferrero, M. Zotta, L. Pinessi.. - In: DEMENTIA AND GERIATRIC COGNITIVE DISORDERS. - ISSN 1420-8008. - 28:3(2009), pp. 239-243.
|Titolo:||Absence of TARDBP Gene Mutations in an Italian Series of Patients with Frontotemporal Lobar Degeneration|
|Settore Scientifico Disciplinare:||Settore MED/26 - Neurologia|
|Data di pubblicazione:||2009|
|Digital Object Identifier (DOI):||http://dx.doi.org/10.1159/000241876|
|Appare nelle tipologie:||01 - Articolo su periodico|