What is Mitochondrial Disease?

Writer: Atessa Editor: Dhriti

Although some think it’s rare and many haven’t even heard of it, mitochondrial disease impacts roughly 1 in 5,000 people. So, what exactly is mitochondrial disease? In honor of mitochondrial awareness week (September 19-25), now is a great time to learn about mitochondrial disease!

What is mitochondrial disease?

Mitochondrial disease/disorder refers to a group of disorders that affect the mitochondria, the powerhouse of the cell in almost every cell of your body. The mitochondria is used to produce energy and some important organs like the heart, muscles, and brain need even more energy than other organs. When the mitochondria levels are messed with, less energy is produced which can lead to organ dysfunction.

Symptoms:

Mitochondrial disease comes with many symptoms, and they can change depending on which cells in the body are experiencing irregular levels of mitochondria. Some health concerns and issues that can come up with mitochondrial disease are fatigue, weakness, metabolic strokes, seizures, cardiomyopathy, arrhythmias, developmental or cognitive disabilities, diabetes mellitus, impairment of hearing, vision, growth, liver, gastrointestinal, or kidney function, and the list goes on and on. If you are interested in reading a longer list of symptoms, I strongly encourage you to check out the second citation’s link.

Causes:

Mitochondria have their own DNA because they are so unique, called mtDNA. Sometimes, the mtDNA or nuclear DNA mutates, causing mitochondrial disease. Another cause can be environmental toxins. Symptoms of mitochondrial disease can show up anywhere from infancy to late adulthood. A not so fun fact is that every 30 minutes, a child is born who will develop a mitochondrial disorder by the age of 10. Due to the wide variety of symptoms that mitochondrial disease presents in, it can be difficult to diagnose and may often be misdiagnosed.

Treatment:

Unfortunately, there is currently no known highly effective treatment or cure for mitochondrial disease. We can manage mitochondrial disease with supportive therapy, which can include nutritional management, exercise, and/or vitamin or amino acid supplements.

Sources:

“World Mitochondrial Disease Awareness Week 2021.” National Awareness Days Calendar 2021, 5 July 2021, https://www.awarenessdays.com/awareness-days-calendar/world-mitochondrial-disease-awareness-week-2021/

The Children's Hospital of Philadelphia. “Mitochondrial Disease.” Children's Hospital of Philadelphia, The Children's Hospital of Philadelphia, 9 May 2014, https://www.chop.edu/conditions-diseases/mitochondrial-disease