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The Impact of Mitochondrial Dysfunction on Human Bone Cell Metabolism and Remodelling
Sponsor: Aalborg University Hospital
Summary
Cell and mice studies suggest mitochondrial dysfunction may cause altered bone structure. Hypothesis: Decreased mitochondrial energy production affects bone cell development and activity negatively. Comparing humans with the mitochondrial DNA variant, m.3243A\>G, pathogenic variants in POLG or TWNK genes to healthy controls, the aim is to evaluate the effect of mitochondrial dysfunction on: 1: bone-cell development and -activity in bone marrow stem cells and blood. 2: bone cell metabolism including glucose consumption. 3: bone structure assessed by electron microscopy and μCT scans of bone biopsies.
Key Details
Gender
All
Age Range
18 Years - Any
Study Type
INTERVENTIONAL
Enrollment
30
Start Date
2020-02-01
Completion Date
2026-12-01
Last Updated
2025-10-02
Healthy Volunteers
Yes
Interventions
Clinical assessment, blood samples, bone marrow and bone biopsy
Assessment of blood samples, bone marrow and bone biopsy
Locations (1)
Dept. of Clinical Genetics
Aalborg, Denmark