Mítóndríusjúkdómum

Mítóndríusjúkdómum, also known as mitochondrial diseases, are a group of inherited disorders that affect the mitochondria. Mitochondria are the powerhouses of the cell, responsible for generating most of the energy needed for cellular functions. When mitochondria are not working properly, cells may not receive enough energy, leading to cell damage and death. This can affect various parts of the body, particularly organs and tissues that require a lot of energy, such as the brain, muscles, heart, and lungs.

The symptoms of mitochondrial diseases vary widely depending on which organs are affected and the severity of the mitochondrial dysfunction. Some common symptoms can include muscle weakness, fatigue, vision and hearing problems, learning disabilities, developmental delays, heart problems, liver or kidney disease, and neurological issues like seizures or stroke-like episodes. The onset of these diseases can occur at any age, from infancy to adulthood.

Mitochondrial diseases are caused by mutations in either the mitochondrial DNA (mtDNA) or the nuclear DNA. mtDNA is inherited solely from the mother, while nuclear DNA is inherited from both parents. The inheritance pattern can be complex, and not everyone with a mutation will develop symptoms. Diagnosis often involves a combination of clinical evaluation, biochemical tests measuring energy production, and genetic testing. There is currently no cure for most mitochondrial diseases, but treatments focus on managing symptoms, supporting energy production, and preventing complications. Research into new therapies, including gene therapy and other innovative approaches, is ongoing.