This is a project assessing mitochondrial function in patients with
neurodegenerative disease (Parkinsons, corticobasal degeneration,
multiple systems atrophy, progressive supranuclear palsy and essential
tremor) compared to controls. The material is blood cells. Functional
mitochondrial analyses have been performed, measuring oxygen
consumption in blood cells. About 160 subjects in total. NGS targeted
on mtDNA using TWIST capture has been performed on an Illumina
Two research questions:
1) Is there a difference in occurrence of mtDNA deletions and general
mutation load between controls and the difference disease groups?
2) More explorative, as preliminary data for future larger studies:
What variants in mtDNA are associated with high or low mitochondrial
respiratory function in the material in total.