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Harrison's Principles of Internal Medicine, 18e
| Part 3. Genes, the Environment, and Disease > |
Chapter e18. Mitochondrial DNA and Heritable Traits and Diseases
Sections: Mitochondrial DNA and Heritable Traits and Diseases: Introduction, Mitochondrial DNA Structure and Function, Mitochondrial DNA Disease, Impact of Homoplasmic Sequence Variation on Heritable Traits and Disease, Impact of Acquired Somatic MTDNA Mutation on Human Health and Disease, Prospects for Prevention and Treatment of MTDNA Disease, Further Readings.
Topics Discussed: chromosomes and dna; dna, mitochondrial; mitochondrial diseases; mitochondrial dna mutation; mutation and inherited disease.
Excerpt:"Mitochondria are cytoplasmic organelles whose major function is to generate ATP by the process of oxidative phosphorylation in aerobic conditions. This process is mediated by the respiratory electron transport chain (ETC) multiprotein enzyme complexes I–V and the two electron carriers, coenzyme Q (CoQ) and cytochrome c. Other cellular processes to which mitochondria make a major contribution include apoptosis (programmed cell death), along with additional cell-type specific functions (Table e18-1). The efficiency of the mitochondrial ETC in ATP production is a major determinant of overall body energy balance and thermogenesis. In addition, mitochondria are the predominant source for generating reactive oxygen species (ROS), whose rate of production also relates to the coupling of ATP production to oxygen consumption. In light of the centrality of oxidative phosphorylation to the normal activities of almost all cells, it is not surprising that mitochondrial dysfunction can affect almost any organ system (Fig. e18-1). Thus, physicians in many specialties may encounter patients with mitochondrial diseases and should be aware of the existence and characteristics of those diseases...."
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