What are Mitochondrial Diseases?

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What are Mitochondrial Diseases? Blog Image


A recent study has revealed that about a quarter of mitochondrial disease patients suffer from malnutrition.

About Mitochondrial Diseases

  • Mitochondrial diseases are a group of conditions that affect how mitochondria work in your body.
  • What are Mitochondria?
    • Mitochondria are membrane-bound cell organelles that generate most of the chemical energy needed to power the cell's biochemical reactions. 
    • They make it by combining oxygen with the fuel molecules (sugars and fats) that come from your food.
    • Chemical energy produced by the mitochondria is stored in a small molecule called adenosine triphosphate (ATP).
    • Generally, mitochondria, and therefore mitochondrial DNA, are inherited only from the mother.
  • When the mitochondria are defective, the cells do not have enough energy. The unused oxygen and fuel molecules build up in the cells and cause damage.
  • Mitochondrial diseases can affect almost any part of your body, including the cells of your Brain, Nerves, Muscles, Kidneys, Heart, Liver, Eyes, Ears, and Pancreas.
  • Causes:
    • Genetic mutations cause these primary mitochondrial diseases. They usually happen before age 20, and some are more common in infants.
    • Mitochondrial dysfunction can also occur when mitochondria don’t work as well as they should due to another disease or condition. These are called secondary mitochondrial diseases.
  • Symptoms:
    • The symptoms of mitochondrial disease can vary. It depends on how many mitochondria are defective and where they are in the body. 
    • Sometimes only one organ, tissue, or cell type is affected. But often, the problem affects many of them. 
    • Muscle and nerve cells have especially high energy needs, so muscular and neurological problems are common.
  • Treatment:
    • There are no cures for these diseases, but treatments may help with symptoms and slow down the disease.
    • They may include physical therapy, vitamins and supplements, special diets, and medicines.

Q1) What are organelles?

An organelle is a subcellular structure that has one or more specific jobs to perform in the cell, much like an organ does in the body. Among the more important cell organelles are the nuclei, which store genetic information; mitochondria, which produce chemical energy; and ribosomes, which assemble proteins.

Source: Researchers find about a quarter of mitochondrial disease patients suffer from malnutrition