Mitochondrial Dysfunction

Diseases and Disorders Associated with Mitochondria

Mitochondrial disorders are believed to arise either as a result of inherited genetic defects or through damage caused by certain diseases. In either case, the result is the creation of excessive oxidative stress and reduced energy production.4,11 Dysfunctional mitochondria are a key element in a variety of serious, debilitating diseases, both rare and common; as such, they are a promising therapeutic target.

improving mitochondrial function

Mitochondrial Dysfunction in Rare Diseases

Inherited, rare mitochondrial diseases are characterized by known genetic defects. There are more than 200 of these types of diseases, including Leber’s Hereditary Optic Neuropathy (LHON), mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS), Barth Syndrome and many others.4,11 Currently, there are no FDA-approved treatments for any of the rare mitochondrial diseases. There is a significant need for medicines that can restore mitochondrial function and increase energy supply at the cellular level.

Mitochondrial Dysfunction in Common Diseases

In certain diseases impacting organs with high energy demands (skeletal muscle, heart, kidney, eye, brain), dysfunctional mitochondria are believed to be a principal source of oxidative ROS, which may lead to harmful effects and disrupt mitochondrial bioenergetics. Diseases believed to result, in part, from acquired mitochondrial dysfunction include37:

  • Heart failure and other cardiovascular and metabolic diseases
  • Age-related macular degeneration
  • Kidney disease
  • Diabetic macular edema and retinopathies
  • Neurodegeneration
  • Certain skeletal muscle disorders

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