Pathology supported genetic testing and treatment of cardiovascular disease in middle age for prevention of Alzheimer’s disease
Date
2012-04
Authors
Kotze, Maritha J.
Van Rensburg, Susan J.
Journal Title
Journal ISSN
Volume Title
Publisher
SpringerLink
Abstract
Chronic, multi-factorial conditions caused by a
complex interaction between genetic and environmental risk
factors frequently share common disease mechanisms, as
evidenced by an overlap between genetic risk factors for
cardiovascular disease (CVD) and Alzheimer’s disease (AD).
Single nucleotide polymorphisms (SNPs) in several genes
including ApoE, MTHFR, HFE and FTO are known to increase
the risk of both conditions. The E4 allele of the ApoE
polymorphism is the most extensively studied risk factor for
AD and increases the risk of coronary heart disease by approximately
40%. It furthermore displays differential therapeutic
responses with use of cholesterol-lowering statins and acetylcholinesterase
inhibitors, whichmay also be due to variation in
the CYP2D6 gene in some patients. Disease expression may
be triggered by gene-environment interaction causing conversion
of minor metabolic abnormalities into major brain disease
due to cumulative risk. A growing body of evidence supports
the assessment and treatment of CVD risk factors in midlife as
a preventable cause of cognitive decline, morbidity and mortality
in old age. In this review, the concept of pathology
supported genetic testing (PSGT) for CVD is described in this
context. PSGTcombines DNA testing with biochemical measurements
to determine gene expression and to monitor response
to treatment. The aim is to diagnose treatable disease
subtypes of complex disorders, facilitate prevention of
cumulative risk and formulate intervention strategies guided
from the genetic background. CVD provides a model to address
the lifestyle link in most chronic diseases with a genetic
component. Similar preventative measures would apply for
optimisation of heart and brain health.
Description
Publication of this article was funded by the Stellenbosch University Open Access Fund.
The original publication is available at http://link.springer.com/journal/11011
The original publication is available at http://link.springer.com/journal/11011
Keywords
Genetics, Biochemistry, PSGT, Personalised medicine, Alzheimer’s disease, CVD
Citation
Kotze, M. J. & Janse Van Rensburg, S. J. 2012. Pathology supported genetic testing and treatment of cardiovascular disease in middle age for prevention of Alzheimer’s disease. Metabolic Brain Disease, 27(3):255-266, doi:10.1007/s11011-012-9296-8.