Mitochondrial disorder

What is Mitochondrial disorder?

Mitochondrial disease is a group of disorders caused by dysfunctional mitochondria, the organelles that generate energy for the cell. Mitochondria are found in every cell of the human body except red blood cells, and convert the energy of food molecules into the ATP that powers most cell functions.

Mitochondrial diseases are sometimes (about 15% of the time) caused by mutations in the mitochondrial DNA that affect mitochondrial function. Other causes of mitochondrial disease are mutations in genes of the nuclear DNA, whose gene products are imported into the Mitochondria (Mitochondrial proteins) as well as acquired mitochondrial conditions. Mitochondrial diseases take on unique characteristics both because of the way the diseases are often inherited and because mitochondria are so critical to cell function. The subclass of these diseases that have neuromuscular disease symptoms are often called a mitochondrial myopathy.

Questions and answers on "Mitochondrial disorder"

I am a 23 y/o male with Leber's Hereditary Optic Neuropathy LHON, a mitochondrial disorder causing central vision loss. I recently have been...

doctor1 MD

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Proposed treatments for Leber's Hereditary optic neuropathy (LHON) include low vision...

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Suffering from the following symptoms: Intermittant : Lactic acidosis , weakness, hypophosphotemia, hypokalemia , shortness of breath and...

doctor1 MD

I can see you have been extensively investigated and on reviewing your symptoms and the test results I would be interested to know whether...

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