Study Status: RECRUITING
Recruit Status: RECRUITING
Study Type: INTERVENTIONAL
Official Title: The Impact of Mitochondrial Dysfunction on Human Bone Cell Metabolism and Remodelling
Brief 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 ?CT scans of bone biopsies.