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Aswathy, PM and Priya, Srinivas (2016) Progranulin mutation analysis: Identification of one novel mutation in exon 12 associated with frontotemporal dementia. Neurobiology of aging, 39. 218.e1-218.e3. ISSN 1558-1497

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Progranulin (PGRN) mutations account for an average of 15% of familial frontotemporal dementia (FTD) cases and 20% of total FTD cases worldwide. Here, we investigated the frequency of PGRN mutations in FTD patients (n = 116) from a clinical cohort of south India and detected one novel mutation located on exon 12 in a familial behavioral variant FTD patient (accounting for ∼1% of total FTD cases and 6% of familial FTD cases). This mutation was found to introduce a premature termination codon and the prematurely terminated messenger RNA may probably undergo nonsense-mediated decay. In enzyme-linked immunosorbent assay, the proband showed significantly reduced level of plasma PGRN (28 ng/mL) compared with controls (150 ± 38 ng/mL), which implicates haploinsufficiency as the pathogenic mechanism.

Item Type: Article
Uncontrolled Keywords: Frontotemporal dementia; Progranulin; PGRN; Null mutation; Nonsense-mediated decay
Subjects: Cancer Research
Depositing User: Rgcb Library
Date Deposited: 16 Mar 2017 09:51
Last Modified: 16 Mar 2017 09:52
URI: http://rgcb.sciencecentral.in/id/eprint/300

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