The Impact of Mitochondrial Dysfunction on Human Bone Cell Metabolism and Remodelling

Launched by AALBORG UNIVERSITY HOSPITAL · Jul 29, 2022

Keywords

ClinConnect Summary

This clinical trial is studying how problems with tiny parts of cells called mitochondria, which help produce energy, might affect bone health. Researchers want to find out if these issues change how bone cells develop and work, especially in people with certain genetic conditions. They will compare individuals who have specific mitochondrial DNA changes or gene variants linked to mitochondrial diseases to healthy people. The study will look at how these factors influence the growth and activity of bone cells, their energy use, and the overall structure of bones using advanced imaging techniques.

To participate in this study, individuals must be at least 18 years old and have a genetic diagnosis related to mitochondrial dysfunction, or they can be healthy volunteers matched by age and gender. Participants will need to provide signed consent to join. Those with certain health conditions, such as severe kidney or liver issues, or those taking specific medications that affect bone health, will not be eligible. If you choose to participate, you can expect to undergo tests that evaluate your bone health and provide valuable information that could help improve understanding of bone-related issues in people with mitochondrial diseases.

Gender

ALL

Eligibility criteria

• Inclusion Criteria - cases:
• • Genetic diagnosis with: MT-TL1 m.3243A\>G, or POLG variant, het or TWNK variant, het, \> 18 years
• • Signed informed consent
• Inclusion Criteria - controls:
• • Healthy subjects matched on age and gender \> 18 years
• • Signed informed consent
• Exclusion Criteria:
• • Renal (creatinine \> 90 µmol/l)
• • Liver dysfunction (AST \> 3 times the upper limit)
• • Medical treatment influencing bone metabolism (oral corticosteroid \<12 weeks, anti-osteoporosis treatment, sex steroids, anti-convulsants)
• • Pregnancy
• • Excessive consumption of alcohol
• • Treatment with anticoagulants
• • Pre-existing coagulopathy
• • Allergy to lidocaine, morphine or diazepam.