Assaying mitochondrial respiratory complex activity in mitochondria isolated from human cells and tissues.

摘要: Publisher Summary This chapter investigates mitochondrial respiratory complex activity in mitochondria isolated from human cells and tissues. Mitochondrial cytopathies are a heterogeneous group of multisystem disorders predominantly affecting skeletal cardiac muscle the central nervous system, but associated with broad spectrum other clinical phenotypes, including neurodegenerative disease. In many patients, impairment chain function is due to mutation DNA (mtDNA), which may take form rearrangement or point tRNA, rRNA, protein-encoding gene. Despite major advances molecular investigation patients disease abnormalities, there still unresolved problems biochemical frequently lack correlation between genetic abnormalities. concludes that accurate required for determining site severity defect along an understanding control each individual has on overall substrate oxidation.