Related Experiment Video
Updated: May 3, 2026

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
Published on: July 14, 2016
Polymorphisms in BACE2 may affect the age of onset Alzheimer's dementia in Down syndrome
Kin Y Mok1, Emma L Jones2, Marisa Hanney3
1Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, UK; Reta Lila Weston Institute, UCL Institute of Neurology, London, UK.
Abstract:
It is known that Alzheimer's disease (AD) presents at an early age in people with Down syndrome (DS). The trisomy 21 in DS provides an opportunity to study the effect of duplicated genes in AD. APP and BACE2 are 2 genes located in chromosome 21 and related to AD. We looked into our cohort of 67 DS cases with dementia for the effect of BACE2 variants in age of onset of dementia. Of the 83 single-nucleotide polymorphisms (SNPs), 6 were associated with age of onset and another 8 SNPs were borderline associated. Our finding also replicated a previous study showing association of rs2252576 with AD.
Related Concept Videos
Alzheimer Disease l: Introduction
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Genetic Lingo
Human Genetics
The complex relationship between genetics and psychology is observable through common biological components such...
Alzheimer's Disease: Overview
The clinical diagnosis of AD hinges on the presence of memory and other cognitive impairments. Biomarkers, such as changes in Aβ...

