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Neurobiol Aging. 2018 Apr;64:158.e7-158.e13. doi: 10.1016/j.neurobiolaging.2017.12.002. Epub 2017 Dec 12.

Mutation burden profile in familial Alzheimer's disease cases from India.

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Manav Rachna International Institute of Research and Studies (Deemed to be University), Faridabad, India.
National Institute of Mental Health and Neuro Sciences, Bengaluru, India.
National Centre for Biological Sciences, Bengaluru, India.
Institute for Stem Cell Biology and Regenerative Medicine, Bengaluru, India. Electronic address:


This study attempts to identify coding risk variants in genes previously implicated in Alzheimer's disease (AD) pathways, through whole-exome sequencing of subjects (N = 17) with AD, with a positive family history of dementia (familial AD). We attempted to evaluate the mutation burden in genes encoding amyloid precursor protein metabolism and previously linked to risk of dementias. Novel variants were identified in genes involved in amyloid precursor protein metabolism such as PSEN1 (chr 14:73653575, W161C, tgg > tgT), PLAT (chr 8:42039530,G272R), and SORL1 (chr11:121414373,G601D). The mutation burden assessment of dementia-related genes for all 17 cases revealed 45 variants, which were either shared across subjects, or were present in just the 1 patient. The study shows that the clinical characteristics, and genetic correlates, obtained in this sample are broadly comparable to the other studies that have investigated familial forms of AD. Our study identifies rare deleterious genetic variations, in the coding region of genes involved in amyloid signaling, and other dementia-associated pathways.


Alzheimer's disease; Clinical symptoms; Coding variation; Mutation burden; Whole-exome sequencing

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