Progranulin mutation analysis: Identification of one novel mutation in exon 12 associated with frontotemporal dementia

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dc.contributor.authorAswathy, PM
dc.contributor.authorJairani, PS
dc.contributor.authorRaghavan, SK
dc.contributor.authorVerghese, J
dc.contributor.authorGopala, S
dc.contributor.authorSrinivas, P
dc.contributor.authorMathuranath, PS
dc.date.accessioned2017-03-10T03:28:17Z
dc.date.available2017-03-10T03:28:17Z
dc.date.issued2016
dc.description.abstractProgranulin (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.
dc.identifier.citation39 ,;-en_US
dc.identifier.uri10.1016/j.neurobiolaging.2015.11.026
dc.identifier.urihttps://dspace.sctimst.ac.in/handle/123456789/10315
dc.publisherNEUROBIOLOGY OF AGING
dc.subjectGeriatrics & Gerontology; Neurosciences & Neurology
dc.titleProgranulin mutation analysis: Identification of one novel mutation in exon 12 associated with frontotemporal dementia
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