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Approved research

Development of a polygenic risk score for mitochondrial (dys)functioning to predict the development of common late-onset diseases.

Principal Investigator: Dr Debby Hellebrekers
Approved Research ID: 60406
Approval date: June 4th 2020

Lay summary

Identification of individuals at high risk of common (late-onset) disorders can be especially important in clinical care for diseases where therapeutic intervention options or lifestyle adaptation can help to prevent the development and delay progression of the disease. Mitochondria are the energy producing organelles in our cells. Because mitochondrial functioning is central to many common human diseases, it is plausible that mitochondrial dysfunction contributes to the risk of developing common late-onset diseases. Because of the presumable involvement of mitochondrial (dys)function in several common (late-onset) disorders, we believe that genetic variants in genes that code for proteins essential for mitochondrial functioning might contribute to the risk of developing these diseases. Therefore, our plan is to study (both rare and common) variants in the genes coding for the mitochondrial proteins in patients and controls, to identify if persons that carry more genetic variants in these genes have an increased risk to develop late onset diseases.