Progranulin mutation analysis: Identification of one novel mutation in exon 12 associated with frontotemporal dementia
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Date
2016
Journal Title
Journal ISSN
Volume Title
Publisher
NEUROBIOLOGY OF AGING
Abstract
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 similar to 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. (C) 2016 Elsevier Inc. All rights reserved.
Description
Keywords
Geriatrics & Gerontology; Neurosciences & Neurology
Citation
39 ,;-