22 Jun Gene Linked To Decreased Plasma Amyloid and Lower Alzheimer’s Disease Risk

MedicalResearch.com Interview with:

Dr. Hiltunen

Mikko Hiltunen, PhD
Professor of Tissue and Cell Biology
University of Eastern Finland
School of Medicine, Institute of Biomedicine
Kuopio,  Finland 

MedicalResearch.com: What is the background for this study? What are the main findings?

Response:  We wanted to assess among the population-based METSIM (METabolic Syndrome In Men) cohort whether protective variant in APP gene (APP A673T) affects the beta-amyloid levels in plasma. The rationale behind this was that previous genetic studies have discovered that the APP A673T variant decreases the risk of having Alzheimer’s disease (AD).

However, the protective functional outcome measures related to this variant were lacking and thus we anticipated that the elucidation of plasma samples in terms of beta-amyloid levels would provide the much needed link between APP A673T variant and potential protective functions.

MedicalResearch.com: What should clinicians and patients take away from your report?

Response: Approximately 0.3% of the population are carriers of the APP A673T gene variant. Although the variant itself is rare, the observed association with decreased plasma beta-amyloid levels is important from the viewpoint of Alzheimer disease drug trials. Several on-going drug trials for AD focus on decreasing beta-amyloid levels in the brain tissue.

Our findings from the METSIM cohort in eastern Finland show that a life-long decrease in beta-amyloid levels is not associated with detrimental effects on lipid or glucose metabolism, or on any other metabolically relevant events.

MedicalResearch.com: What recommendations do you have for future research as a result of this study?

Response:  Our findings provide support for the amyloid cascade hypothesis, a hypothesis which is key concepts in Alzheimer disease research and which has recently been heavily questioned due to failed beta-amyloid based drug trials and treatment experiments. In other words, already a moderate reduction in beta-amyloid levels may provide protection against Alzheimer disease.

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Citation:

Henna Martiskainen, Sanna-Kaisa Herukka, Alena Stančáková, Jussi Paananen, Hilkka Soininen, Johanna Kuusisto, Markku Laakso, Mikko Hiltunen. Decreased plasma β-amyloid in the Alzheimer’s disease APP A673T variant carriers. Annals of Neurology, 2017; DOI: 10.1002/ana.24969

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Last Updated on June 22, 2017 by Marie Benz MD FAAD