Research
Print page Print page
Switch language
The Capital Region of Denmark - a part of Copenhagen University Hospital
Published

Mitochondrial Point Mutation m.3243A>G Associates With Lower Bone Mineral Density, Thinner Cortices, and Reduced Bone Strength: A Case-Control Study

Research output: Contribution to journalJournal articleResearchpeer-review

DOI

  1. Hydroxylated Long-Chain Acylcarnitines are Biomarkers of Mitochondrial Myopathy

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Multiple Fractures and Impaired Bone Fracture Healing in a Patient with Pycnodysostosis and Hypophosphatasia

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Growth and differentiation factor 15 as a biomarker for mitochondrial myopathy

    Research output: Contribution to journalJournal articleResearchpeer-review

  • Jakob Høgild Langdahl
  • Anja Lisbeth Frederiksen
  • Stinus Jørn Hansen
  • Per Heden Andersen
  • Knud Bonnet Yderstraede
  • Morten Dunø
  • John Vissing
  • Morten Frost
View graph of relations

Mitochondrial dysfunction is associated with several clinical manifestations including diabetes mellitus (DM), neurological disorders, renal and hepatic diseases, and myopathy. Although mitochondrial dysfunction is associated with increased bone resorption and decreased bone formation in mouse models, effects of alterations in mitochondrial function on bone remodeling and mass have not been investigated in humans. We recruited 45 carriers (29 females, 16 males) with the m.3243A>G mutation and healthy controls matched for gender, age, height, and menopausal status. DXA and HRpQCT scans were performed, and bone turnover markers (BTMs) P1NP and CTX were measured. Cases and controls were well matched except for body weight, which was lower in cases (63.6 ± 18.1 kg versus 74.6 ± 14.8 kg, p < 0.01), and manifest DM was present in 25 of 45 cases (none in controls). Bone scans showed lower BMD at the lumbar spine, total hip, and femoral neck in cases. Mean lumbar spine, total hip, and femoral neck T-scores were -1.5, -1.3, and -1.6 in cases, respectively, and -0.8, -0.3, and -0.7 in controls (all p < 0.05). The m.3243A>G mutation was associated with lower BMD, cortical but not trabecular density, cortical thickness, and estimated bone strength. Furthermore, BTMs were lower in the m.3243A>G group before but not after adjustment for DM. The mitochondrial point mutation m.3243A>G was associated with decreased bone mass and strength. Although the coexistence of DM may have influenced bone turnover, the bone phenotype observed in m.3243A>G cases appeared to mirror age-related deterioration in bone, suggesting that mitochondrial dysfunction may cause a premature aging of bone. © 2017 The Authors. Journal of Bone and Mineral Research Published by Wiley Periodicals Inc.

Original languageEnglish
JournalJournal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Volume32
Issue number10
Pages (from-to)2041-2048
Number of pages8
ISSN0884-0431
DOIs
Publication statusPublished - Oct 2017

    Research areas

  • Journal Article

ID: 52120388