Mitochondrial diseases and biology

Mitochondrial diseases and biology

Pathophysiology, diagnostics and treatment of mitochondrial myopathies have been a focus in our center for many years. We have developed new diagnostic exercise tests for mitochondrial myopathies, and have in the past and are currently testing different compounds that may have a beneficial effect in the disorders. We are currently also studying mitochondrial dynamics to training with aging, and whether age-related muscle loss (sarcopenia) can be treated.


References

  • Soldath P, Wegener M, Sander B, Rosenberg T, Duno M, Wibrand F, Vissing J. Leber hereditary optic neuropathy due to a new ND1 mutation. Ophthal Genet In press.
  • Hedermann G, Løkken N, Dahlqvist JR, Vissing J. Dysphagia is prevalent in patients with CPEO and single, large-scale deletions in mtDNA. Mitochondrion 2016; 32: 27-30.
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  • Rafiq J, Duno M, Østergaard E, Ravn K, Vissing CR, Wibrand F, Vissing J. Exercise intolerance and myoglobinuria associated with a novel maternally inherited MT-ND1 mutation. JIMD Rep 2016; 25: 65-70.
  • Lund M, Melbye M, Diaz LJ, Duno M, Wohlfahrt J, Vissing J. Mitochondrial dysfunction and risk of cancer. Br J Cancer 2015; 112: 1134-1140.
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  • Wibrand F, Jeppesen TD, Frederiksen AL, Olsen DB, Duno M, Schwartz M, Vissing J. Limited diagnostic value of enzyme analysis in patients with mitochondrial tRNA mutations. Muscle Nerve 2010; 41; 607-613.
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