Primary mitochondrial myopathies: researchers explore new pathways for treatment
Recent insights into the nature of mitochondrial diseases have led to novel approaches in treating them. Mitochondrial diseases are “genetic,” which means that patients are born with inherited errors in their DNA that reduces the performance of their mitochondria. Mitochondria are found within cells, and are responsible for producing energy for the cells. In patients with mitochondrial disease cells that require a lot of energy, such as the skeletal muscles needed for walking, don’t produce enough energy to function as they should.
Current treatment options for mitochondrial diseases remain limited to providing symptomatic relief, rather than directly affecting the cause of those symptoms and the disease: the lack of healthy, functioning mitochondria.
One of the areas that may directly improve mitochondrial performance is increasing the activity of a protein called peroxisome proliferator-activated receptor (PPAR receptor delta). PPARs are found in muscle and other cells and activate the creation of mitochondria. Earlier studies of investigational medications that specifically worked by activating the PPAR delta receptors in respiratory muscle have shown it stimulated the mitochondria and improved muscles’ ability to function. It may even be that stimulating PPAR delta can increase mitochondrial function enough to improve energy production and affect disease.
For people with primary mitochondrial myopathies (PMM), it is reassuring to know new studies are continuing to explore activators of PPAR delta as a possible way to stimulate mitochondrial activity, increase energy production, and improve the performance of skeletal muscle cells.
If you or someone you care for with PMM may be interested in participating in a clinical study exploring new approaches to affect the mitochondria in PMM, click here to the Know Rare study finder. The study finder will show you the recruiting clinical studies and their requirements to participate, and the Know Rare Patient Advocate can help you navigate to a clinical study and connect you to the study’s research team.
Source: Hassani A, et al. Mitochondrial Myopathies: developments in treatment. Current Opinion in Neurology 2010, 23:459–465
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