Being diagnosed and advocating for a person living with mitochondrial disease can be overwhelming. Understanding the language used to describe your condition and the tests you may need to have, can help you have informed, empowered discussions that will help ensure you have the best care, and quality of life, possible. If your health team ever uses terminology that you do not understand, it is your responsibility to ask for clarification. MitoLingo can help you build a base understanding.
Mitochondria provide our muscles with the energy they need to function. | |
ATP is the main source of energy for our cells. It is comprised of adenine, a ribose sugar and three phosphate groups linked together by two high-energy bonds. | |
Amino acids combine in different patterns to create the essential proteins we need to live, grow and reproduce. | |
Proteins perform specific functions depending on what amino acids are used to construct them and the order in which they are connected. | |
DNA (deoxyribonucleic acid) is a long molecule that contains genes. Changes in nuclear DNA (nDNA) or mitochondrial DNA (mtDNA) can cause Primary Mitochondrial Myopathy (DMM). | |
Genes contain special instructions for creating specific proteins that each have a unique purpose. Humans have over 22,000 genes. Some genes are linked to energy production. | |
Gene mutations are changes to genes that may impair instructions for making proteins. This may result in too many or too few proteins being produced, or for them not to work properly. |