Mitochondrial Disease

What are Mitochondrial Diseases?

Most of them are known as Rare Diseases.

What exactly are Mitochondrial Diseases, though?

Mitochondrial Diseases are termed generally as a group of genetic conditions that impact how mitochondria in human cells produce energy.  We will start with this general definition because some of them indirectly impact the way that human cells produce energy or produce effects that cause other problems that are not directly related just to this apparent primary function of the mitochondria.

The structures known as Mitochondria in human cells produce most of the energy that is used by the human body.  When a Mitochondrial Disease is present or underway the human body does not receive the energy it needs to carry out normal activities like respiration, digestion, movement, sight, hearing and other things.

Presently there is no cure for these diseases, however, early detection and treatment can help to prevent severe complications that can cause pain or shorten a person’s lifespan.

The effects of individual Mitochondrial Diseases or a combination of them have been recorded since the late 1800’s, however, the actual identification of the origin of these diseases as disorders in the Mitochondria was first documented in 1962.

Here is a reference :
           

“Abnormal carbohydrate metabolism in renal disease: blood glucose unresponsiveness to hypoglycemia, epinephrine, and glucagon”

BD COHEN

Annals of Internal Medicine, 1962•acpjournals.org