In:
Dementia and Geriatric Cognitive Disorders, S. Karger AG, Vol. 28, No. 3 ( 2009), p. 239-243
Abstract:
〈 i 〉 Background/Aim: 〈 /i 〉 Recent studies showed that TAR DNA-binding protein 43 (TDP-43), encoded by the 〈 i 〉 TARDBP 〈 /i 〉 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 〈 i 〉 TARDBP 〈 /i 〉 gene in the disease. 〈 i 〉 Methods: 〈 /i 〉 We sequenced the 〈 i 〉 TARDBP 〈 /i 〉 gene in 172 unrelated FTLD patients recruited from 2 Italian memory clinics. 〈 i 〉 Results: 〈 /i 〉 We identified 3 different variants of the 〈 i 〉 TARDBP 〈 /i 〉 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. 〈 i 〉 Conclusion: 〈 /i 〉 Our study, in accord with previous studies in different populations, found no evidence for a major genetic role of the 〈 i 〉 TARDBP 〈 /i 〉 gene in FTLD.
Type of Medium:
Online Resource
ISSN:
1420-8008
,
1421-9824
Language:
English
Publisher:
S. Karger AG
Publication Date:
2009
detail.hit.zdb_id:
1482186-2
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