Knowra Mitochondrial disease Mitochondrial disease Mitochondrial diseases are disorders caused by impaired mitochondrial function, often disrupting energy production. They can affect many organs, especially tissues with high energy demands.
Oxidative phosphorylation : The mitochondrial process that uses electron transfer to generate a proton gradient and synthesize ATP. Defects in this process are a common route from mitochondrial dysfunction to cellular energy shortage.
Mitochondrial disease diagnosis : The clinical and laboratory process of identifying disorders caused by mitochondrial dysfunction. Diagnosis combines symptoms, genetic testing, and sometimes biochemical or tissue studies.
MELAS : A mitochondrial disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. MELAS shows how mitochondrial dysfunction can affect the brain, muscles, and metabolism.
Primary mitochondrial myopathy : A mitochondrial disorder in which skeletal muscle is a principal site of disease. This narrower diagnosis contrasts with mitochondrial diseases that predominantly affect other organs.
Mitochondrial DNA : The small circular genome found in mitochondria, encoding components of energy production and the machinery to express them. Variants in this genome can impair mitochondrial function and cause inherited disease.
Mitochondrial disease genetics : The study of genetic causes and inheritance patterns of mitochondrial disorders. Genetic analysis can distinguish mitochondrial DNA variants from nuclear-gene causes.
Leigh syndrome : A severe neurological disorder involving progressive lesions in the brainstem and basal ganglia. It illustrates how mitochondrial disease can present in infancy with rapidly progressive neurological decline.
Mitochondrial dysfunction : Impaired mitochondrial activity that can arise from disease, aging, toxins, or temporary cellular stress. Not every instance of mitochondrial dysfunction is a genetic or clinical mitochondrial disease.
Heteroplasmy : The presence of more than one mitochondrial DNA variant within a cell or individual. Different proportions of healthy and altered mitochondrial DNA help explain variable disease severity.
Lactate test : A blood or cerebrospinal-fluid test measuring lactate concentration. Elevated lactate can indicate impaired oxidative metabolism, though it is not specific to mitochondrial disease.
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