Mitochondrial Diseases_ Causes, Symptoms & Treatment3

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University of Illinois, Urbana Champaign *

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Biology

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Nov 24, 2024

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pdf

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What are the symptoms of mitochondrial disease? Symptoms of mitochondrial diseases vary based on the type and location of the affected cells. They can range from mild to severe and could include: e Poor growth. e Muscle weakness, muscle pain or a low muscle tone. e Vision and/or hearing loss. ¢ Developmental delays or issues with cognitive development. e Diarrhea or constipation. e Unexplained vomiting. e Acid reflux and/or swallowing difficulties. e Seizures. ¢ Migraines. e Respiratory (breathing) problems. e Fainting. Symptoms of mitochondrial diseases can be present at birth, but they can also arise at any age. A healthcare provider usually detects symptoms affecting more than one organ or organ system at the same time. Symptoms of the same disease can vary from person to person, even among family members. What causes mitochondrial disease? A lack of energy production from mitochondria in your cells causes mitochondrial disease. Mitochondria are responsible for producing energy within your body. When your mitochondria don't receive the instructions they need from your body’s DNA to make energy, it can damage your cells or cause them to die early. This affects how your organs and organ systems function, which leads to symptoms of the condition. How does someone get a mitochondrial disease? Mitochondrial diseases are genetic. You can inherit these conditions from your biological family in an autosomal dominant or autosomal recessive pattern. This means that you can get a changed (mutated) gene that causes this condition from one or both of your biological parents respectfully. Some cases can occur randomly (de novo) without any history of the condition in your biological family. Certain cases of mitochondrial disease have a mitochondrial inheritance. This occurs when the mitochondria contain their own DNA. Mitochondrial conditions caused by mutations in the mitochondrial DNA are exclusively inherited from the parent assigned female at birth. Can other conditions cause mitochondrial diseases? Yes. Mitochondrial dysfunction occurs when mitochondria don’t work as well as they should due to another disease or condition. Many conditions can lead to secondary mitochondrial dysfunction, including: ¢ Alzheimer’s disease. e Muscular dystrophy. e Type 1 diabetes. e Multiple sclerosis. e (Cancer. If you have secondary mitochondrial dysfunction, you don't have a genetic mitochondrial disease. What are the risk factors for mitochondrial disease? You're more at risk of developing a mitochondrial disease if it runs in your biological family history or if you have a condition that causes secondary mitochondrial dysfunction. Mitochondrial disease affects both adults and children. ADVERTISEMENT Ad
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