Endocrine Abstracts (2012) 28 S5.4

Mitochondrial dysfunction and muscle disease

Shamima Rahman

UCL, UCL, London, United Kingdom.

Mitochondria are complex dynamic intracellular organelles that are responsible for many aspects of muscle metabolism, including energy production via the Krebs cycle, fatty acid beta oxidation, and the respiratory chain and oxidative phosphorylation system; calcium homeostasis; cell signalling via the generation of reactive oxygen species; and regulation of apoptotic cell death. This lecture will discuss muscular phenotypes related to mitochondrial dysfunction, including ocular and skeletal myopathies, recurrent rhabdomyolysis, cardiomyopathy and multisystem disease, and will explore the genetic defects underlying these phenotypes. These are disorders of two genomes: disease may be caused by mutations in the maternally inherited small circular mitochondrial genome, or by Mendelian mutations in any of ~1500 nuclear genes whose products are targeted to the mitochondrion. This lecture will also consider the molecular mechanisms regulating mitochondrial biogenesis, and how these may be harnessed to develop novel therapeutic strategies to treat mitochondrial muscle disease.

Declaration of interest: There is no conflict of interest that could be perceived as prejudicing the impartiality of the research reported.

Funding: No specific grant from any funding agency in the public, commercial or not-for-profit sector.

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