Mitochondrial disease

Mitochondrial disease

Mitochondrial disease (/ˌmaɪtəˈkɒndriəl/; from the Greek mitos, thread, and chondrion, granule) is a group of disorders caused by dysfunctional mitochondria, the organelles that generate energy for the cell.

Etymology

The term "mitochondrial disease" is derived from the name of the organelles that are affected, the mitochondria. The word "mitochondria" itself comes from the Greek words mitos, meaning thread, and chondrion, meaning granule.

Definition

Mitochondrial diseases are a group of metabolic disorders. The common feature among them is that they are caused by genetic mutations that affect the function of the mitochondria, the "powerhouses" of the cell. These diseases can be inherited through maternal or Mendelian inheritance and can affect any organ system of the body.

Symptoms

The symptoms of mitochondrial diseases can vary greatly, as they can affect any part of the body. However, the most commonly affected areas are those that require the most energy, such as the heart, brain, muscles, and lungs. Symptoms can include muscle weakness, neurological problems, cardiac disease, respiratory complications, seizures, lactic acidosis, developmental delays, and failure to thrive.

Diagnosis

Diagnosis of mitochondrial diseases can be challenging due to the wide range of symptoms and the fact that many other diseases can cause similar symptoms. However, a combination of clinical symptoms, laboratory tests, and genetic testing can often lead to a diagnosis.

Treatment

There is currently no cure for mitochondrial diseases, but treatments can help manage symptoms and slow the progression of the disease. These can include vitamins and supplements, physical therapy, respiratory therapy, and other supportive treatments.

Related Terms

• Mitochondria
• Metabolic disorder
• Genetic mutation
• Maternal inheritance
• Mendelian inheritance
• Lactic acidosis
• Failure to thrive

External links

• Medical encyclopedia article on Mitochondrial disease
• Wikipedia's article - Mitochondrial disease

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