Genetic and environmental influences on early AD biomarkers: a twin approach
VU Medical Centre
Supervising Advisor: Dr. Philip Scheltens
Alzheimer’s disease (AD) is an age related neurodegenerative disorder characterized by progressive neuronal loss, and at this stage has no effective treatment. The causes of the disease have not been clarified. We will measure markers for AD in identical twins to understand how genetic and environmental risks contribute to AD. This may lead eventually to early treatments for AD. Identical twins share 100% of their genetic material. Therefore, discordance within identical twins should be related to environmental factors, possibly also including so-called epigenetic risk factors. Discordance in identical twins means that one twin is healthy, and the other twin affected by disease. In the pre-disease phase discordance can be for biomarkers and early indicators of disease. Unraveling the causes of such discordances will be extremely useful. Our study is unique in that we will bring together an unprecedented large sample of 60 to 90 year old cognitively normal identical twin pairs and assess a very large range of early AD markers.
Twins are born in every stratum of society and are highly motivated to take part in research. We have extensive experience in their recruitment through the Netherlands Twin Register (http://www.tweelingenregister.org/). Within this study we collect information on risk factors, clinical markers and biomarkers for AD, including neuropsychological examinations, brain scans, blood and cerebrospinal fluid, DNA, duplex of the carotids and specific eye measurements, in 100 cognitively normal identical twin pairs aged > 60 years. By unraveling the causes of identical twin discordance for these risk markers we will substantially contribute to the development of novel insights into the pathophysiology of AD which may lead to novel strategies for AD prevention.