Must-Know Facts About Mitochondrial Disease

Must-Know Facts About Mitochondrial Disease

Learn about the surprising disease that may have afflicted Charles Darwin

If there’s one thing you remember from high school biology, it’s probably this: Mitochondria are the powerhouses of the cells. It stands to reason that problems with mitochondria wreak havoc on the body. Mitochondrial disease is a catchall term for hundreds of conditions that produce a very wide range of symptoms. Taken together, they’re pretty rare, with estimates ranging between 1 in 2500 to 1 in 8500 people.

You may think you don’t know anyone with a mitochondrial disease, but chances are you’ve heard of one: Charles Darwin (the theory-of-evolution guy). He faced many obstacles on his quest to discover human origins, including poor health. Some researchers think he was plagued by a mitochondrial disease called MELAS (an acronym for mitochondrial encephalopathy, lactic acidosis and stroke-like episodes).

In honor of Mitochondrial Disease Awareness Week, which is celebrated every year during the third week in September, here are some important facts you should know.

What Is Mitochondrial Disease?

Really, the question is what are mitochondrial diseases? They’re caused by mutations in DNA that can either be inherited from both parents or arise at or soon after conception. Some disorders only affect one organ, while others can affect groups of organs. They prevent the mitochondria from making enough energy to “feed” the body’s cells. These diseases can be present at birth or develop later in life, and symptoms are wide-ranging, from seizures to breathing difficulty to poor vision to organ failure.

How Is Mitochondrial Disease Diagnosed?

Mitochondrial diseases are difficult to diagnose, especially in children. There are many diseases with many symptoms, and symptoms can vary widely from person to person, even with the same disease. And various conditions often mimic other diseases. Mitochondrial diseases are often mistaken for autism, ALS (think Ice Bucket Challenge), muscular dystrophy and Alzheimer’s disease.

Physicians who suspect mitochondrial disease may use family history, DNA tests, imaging studies (MRI or CT), bloodwork and other labs, and even procedures such as muscle biopsies and EKGs, to help confirm a diagnosis.

How Is It Treated?

Mitochondrial diseases have no cure, but symptoms, such as seizures or attention problems, can be managed. Treatments are as varied as the numerous conditions, and some treatments that work well for one disease may not work at all for another.

Exercise is recommended for people who are able to do it. No drugs are proven to help treat the disorders, but doctors often suggest supplements such as coQ10, L-carnitine, L-arginine and creatine.

To find out more about mitochondrial diseases, visit the Foundation for Mitochondrial Medicine’s website or Sharecare page.