mitokondriotaudit

Mitochondrial disorders are a group of rare, inherited metabolic diseases that affect mitochondria, the energy-producing powerhouses within cells. These disorders arise from mutations in either the mitochondrial DNA (mtDNA) or nuclear DNA that encodes mitochondrial proteins. Mitochondria are responsible for cellular respiration, converting nutrients into adenosine triphosphate (ATP), the main energy currency of the body. When mitochondria malfunction, cells cannot produce enough energy, leading to a wide range of symptoms that can affect virtually any organ system.

The clinical presentation of mitochondrial disorders is highly variable, making diagnosis challenging. Symptoms often depend on which organs are most energy-dependent, such as the brain, muscles, heart, and eyes. Common symptoms include muscle weakness and fatigue, developmental delays, learning disabilities, vision and hearing problems, and organ failure. The onset of symptoms can occur at any age, from infancy to adulthood. Because mitochondria are inherited maternally through mtDNA, maternal inheritance is a hallmark of many mtDNA disorders. However, nuclear DNA mutations can be inherited in autosomal dominant, autosomal recessive, or X-linked patterns. Diagnosis typically involves a combination of clinical evaluation, blood tests to assess metabolic markers, muscle biopsy, and genetic testing. Currently, there is no cure for most mitochondrial disorders, and treatment focuses on managing symptoms, improving quality of life, and preventing complications.