Mitochondrial Disease Inquiry 

We all know that the mitochondria is the powerhouse of the cell. But what happens when this incredibly important organelle begins to dysfunction? If you would like to find out the full answer, then continue reading this article by Luwinna Wu to find out more about mitochondrial diseases. 

You may have heard or learned that the mitochondria is the powerhouse of the cell. If you ask an individual what they remember from high school biology, their answer would probably respond with that iconic phrase. Here is a quick crash course on the mitochondria’s purpose.  The main function of the mitochondria is to convert oxygen (O2) and glucose (C6H12O2) into Adenosine Triphosphate (ATP), which is a source of chemical energy. The ATP produced by the mitochondria helps us develop, conduct daily tasks, and maintain homeostasis. 

 The mitochondria is present in almost all the cells in our bodies, except for red blood cells. These organelles are where we get the majority of our energy. The mitochondrion is a major step in eukaryotic cell evolution, second only to the nucleus. 

Currently, there are two main causes of a mitochondrial disease: hereditary and environmental factors. In the United States, approximately 20,000 individuals are diagnosed with a mitochondrial disease every single year. Symptoms of mitochondrial disease can occur at any age and commonly include muscle weakness, fatigue, low stamina, weight loss, etc. 

For starters, mitochondrial diseases are generally inherited maternally, meaning an individual with the disease most likely inherited it from their mother. Our genetic codes frequently make small errors, such as deleting a DNA base, mismatching bases, or pairing bases incorrectly.   Normally, our cells catch and fix these errors instantly. However, sometimes our cells can't correct them.  On average, our genetic code makes three errors per three billion bases. Mitochondrial disease occurs due to mutations in an individual's mitochondrial DNA (mtDNA) or nuclear DNA (nDNA). These mutations affect the overall function of the mitochondria.

Another factor that contributes to an individual developing a mitochondrial disease is harmful environmental factors. This may occur when a fetus experiences oxidative stress due to the mother’s exposure to environmental toxins during pregnancy. Toxins such as pesticides, lead, and polycyclic aromatic hydrocarbons are considered harmful to the unborn baby and will negatively impact mitochondrial function.

As of now, there is no cure for mitochondrial disease. However, we live in a time of advanced technology and continuous medical advancements, so a cure may be discovered in the future. Meanwhile, individuals can undergo therapy and take medication to manage their symptoms and prevent their condition from progressively declining.

Works Cited: 

BYJU, “In which cell mitochondria is absent?”, byjus.com/ias-questions/in-which-cell-mitochondria-is-absent/#:~:text=Red%20Blood%20cells%20(RBC)%20do%20not%20have%20mitochondria, Accessed 11 June 2024 

Cleveland Clinic, “Mitochondrial Diseases: Causes”, 9 May 2023 my.clevelandclinic.org/health/diseases/15612-mitochondrial-diseases, Accessed 10 June 2024 

mito_matters (The Mito Matters Campaign). “4 Facts About Mitochondrial Diseases You Probably Didn’t Know” 16, May 2024,.instagram.com/mito_matters/p/C7DDzo_RT6L/

Pray, Leslie, “DNA Replication and Cause of Mutation”, Scitable by nature education,nature.com/scitable/topicpage/dna-replication-and-causes-of-mutation-409/#:~:text=Nonetheless%2C%20these%20enzymes%20do%20make,every%20time%20a%20cell%20divides

Tempo Bioscience, “What is Mitochondrial Dysfunction”, 18 July 2017 tempobioscience.com/what-is-mitochondrial-dysfunction/#:~:text=What%20causes%20mitochondrial%20dysfunction%3F,both%20mitochondrial%20and%20nuclear%20DNA, Accessed 10 June 2024