Mítilfrumubólga

Mítilfrumubólga, also known as mitochondrial disease, is a general term for inherited disorders that disrupt the function of mitochondria. Mitochondria are the powerhouses of the cell, responsible for generating most of the cell's supply of adenosine triphosphate (ATP), used as a source of chemical energy. When mitochondria are not functioning properly, cells may not be able to produce enough energy to carry out their vital functions.

These diseases can affect virtually any part of the body, as energy is required for all cellular processes. Common symptoms can include muscle weakness, exercise intolerance, developmental delays, vision or hearing loss, and neurological problems affecting the brain and nervous system. The severity and specific symptoms of mitochondrial disease vary widely depending on which genes are affected and how severely mitochondrial function is impaired.

Mitochondrial diseases are caused by mutations in either the mitochondrial DNA (mtDNA) or nuclear DNA (nDNA). mtDNA is inherited solely from the mother, while nDNA is inherited from both parents. Diagnosis typically involves a combination of clinical evaluation, blood tests to assess metabolic function and enzyme activity, and genetic testing to identify specific mutations. Currently, there is no cure for most mitochondrial diseases, but treatments focus on managing symptoms and improving quality of life. This can include a balanced diet, appropriate exercise regimens, and medications to address specific symptoms like seizures or muscle pain. Research into new therapies and potential cures is ongoing.