Chapter 38 - Case Studies and Enrichment References

Abstract

The chapter discusses various clinical studies on disorder of fission of organelles, mitochondria, and peroxisomes. The case study illustrates an intracellular organization of mitochondria and peroxisomes require both fusion and fission processes. Defects in these processes lead to serious clinical consequences consistent with their various metabolic roles. The chapter also describes a case study on paternal inheritance of mitochondrial DNA. This clinical case reveals an exception to the widely held concept of maternal inheritance of mitochondrial DNA. Thus, in evaluating family studies of kindreds of mitochondrial diseases, paternal transmission of mitochondrial DNA may have to be considered when the studies are discordant with the traditional pattern for a given patient. The chapter further discusses the treatment of acetaminophen toxicity with N-acetylcysteine. Acetaminophen, which is commonly used for its analgesic and antipyretic properties, can produce toxic effects with acute hepatic damage. This can occur in subjects with chronic alcoholism, malnutrition, and who are on medications that induce cytochrome P-450 enzymes.