Skip to main content
  • Poster presentation
  • Open access
  • Published:

An intronic rare mutation in Presenilin-1 (PSEN-1) gene may be involved in the developement of Alzheimer’s disease


The Presenilin-1 gene (PSEN-1) encodes a protein component of gamma-secretase complex which is involved in processing of amyloid precursor protein (APP). The PSEN-1 is involved in many cardinal mechanisms in several molecular pathway which when impaired leads to the manifestation of Alzheimer’s disease (AD). The aim of the study was to investigate the role of PSEN-1 gene in the developement of AD in Indian Bengali population.

Materials and methods

Blood samples were collected from 96 AD patients and 173 age matched control individuals. DNA was isolated from each sample and then sequencing was performed for the exon 8 and its flanking introns of PSEN-1 gene.


A rare mutation rs201992645 was identified within intron 8 and several in. silico analyses (Bioinformatic tools like ‘Human Splicing Finder’, ‘SpliceAid’ and ‘mutation t@sting’) revealed the mutation as ‘potentially damaging’ at the transcript splicing level. The genotypic frequencies of mutant heterozygotes were 0.031 AD, but it was not found in the control population.


We hypothesize that this rare mutation may be involved in the malfunctioning of Presenilin-1 protein and thus may play a role in the manifestation of Alzheimer’s disease. Further study with large population size may establish this mutation as a potential biomarker for diagnosis of AD.

Author information

Authors and Affiliations


Corresponding author

Correspondence to Pranami Bhaumik.

Rights and permissions

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver ( applies to the data made available in this article, unless otherwise stated.

Reprints and permissions

About this article

Cite this article

Bhaumik, P., Ghosh, P. & Dey, S.K. An intronic rare mutation in Presenilin-1 (PSEN-1) gene may be involved in the developement of Alzheimer’s disease. Mol Cytogenet 7 (Suppl 1), P25 (2014).

Download citation

  • Published:

  • DOI: