Biochemical and molecular features of deficiencies of Complexes I, II and III

摘要: Publisher Summary The chapter discusses the biochemical and molecular features of deficiencies Complexes I, II, III. Functional defects respiratory chain are found in any its components specific to one complex or involve multiple deficiencies. As an intact is required for optimal ATP production during aerobic respiration, a severe deficiency complexes result cellular dysfunction. site defect does not correlate with clinical presentation. Certain phenotypes more frequently associated particular patterns abnormalities. investigation these at functional structural levels provides valuable insights into nature genetic association them. Various approaches have been used patients suspected defect. experimental approach taken identification humans often governed by amount tissue available.