A Rare Intronic Variation of Presenilin-1 (rs201992645) is Associated with AlzheimerÃ¢Â€Â™s Disease and Down Syndrome BirthPranami Bhaumik1, Priyanka Ghosh1, Sujoy Ghosh2, Kausik Majumdar3, Sandip Pal4, Biswanath Sarkar5, AbhishiktaGhosh Roy5, Abhinandan Chakraborty1and Subrata Kumar Dey1*
- *Corresponding Author:
- Subrata Kumar Dey
Human genetics Research Unit
Department of Biotechnology
School of Biotechnology and Biological Sciences
West Bengal University of Technology, BF – 142
Salt Lake City, Sector I. Kolkata, West Bengal, India
Fax: (033) 2334 1030
Email: [email protected]
Received date: June 15, 2014; Accepted date: September 30, 2014; Published date October 08, 2014
Citation: Bhaumik P, Ghosh P, Ghosh S, Majumdar K, Sarkar B, et al. (2014) A Rare Intronic Variation of Presenilin-1 (rs201992645) is Associated with Alzheimer’s Disease and Down Syndrome Birth. Hereditary Genet 3:136. doi: 10.4172/2161-1041.1000136
Copyright: © 2014, Bahumik P et al. 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 author and source are credited.
Background and objective: Presenilin-1 (PSEN-1) gene is a potent candidate that relates Alzheimer’s disease (AD) to Down syndrome (DS). Genetic variation of PSEN-1 could be a risk factor that predisposes individual for both AD and DS and may contribute the common etiology of both the disorders. Methods: We sequenced exon 8 of PSEN-1 with flanking introns in 136 DS patients with their parents, 96 AD patients, 173 age-matched controls. Results were analysed in-silico to anticipate the damaging effect at molecular level. Results: A rare polymorphism rs201992645 was identified within intron 8 and in silico analysis revealed the variation as ‘potentially damaging’ at the transcript splicing level. The genotypic frequencies of mutant heterozygotes were 0.031, 0.029 and 0.029 for AD, DS and mother of DS respectively. Conclusions: We have suggested that this variation may cause AD manifestation in mothers of DS patients and is the potential marker for predisposition testing of both disorders.