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Mitochondrial Disorders Causing Cardioskeletal Myopathies In Childhood
Sirisak Chanprasert, W. Craigen
Published 2017 · Biology
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Abstract Mitochondria are important organelles that are found in all nucleated human cells. They perform a variety of essential functions, including hosting pathways of intermediary metabolism, generating cellular energy in a form of adenosine trinucleotide phosphate, maintaining calcium homeostasis in excitable cell types, charging the creatine kinase circuit in muscle and brain, regulating cell death programs such as apoptosis, and participating in cell cycle control through retrograde signaling. Genetic mitochondrial disorders can result in deleterious effects on tissues that have high energy demands such as skeletal muscle, brain, and heart, but can also lead to disorders of virtually any organ or cell type. Defects in mitochondrial DNA can give rise to mitochondrial respiratory chain disorders, as can a large number of nuclear gene defects, often manifesting as skeletal and cardiac muscle disease. In addition, given the dependence of muscle on fatty acids for energy, certain long chain fatty acid oxidation disorders can mimic respiratory chain disorders. In this chapter, we will review a variety of mitochondrial disorders and their impact on cardiac function.
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