publication . Article . Part of book or chapter of book . 2013

Mitochondrial Disease

Srijaya K. Reddy; Richard J. Levy;
Open Access English
  • Published: 01 Feb 2013 Journal: Disease and Molecular Medicine, volume 1, issue 1, pages 11-14 (issn: 2147-6748, Copyright policy)
  • Publisher: Scopemed
Abstract
<p>Mitochondrial encephalomyopathies are caused by primary defects of the respiratory chain that lead to disturbed generation of adenosine triphosphate by aerobic metabolism. This characteristically impairs the function of high-demand tissues such as the brain, eye, cardiac, and skeletal muscle, as well as endocrine organs. The numerous proteins involved are encoded by genes in mitochondrial or nuclear DNA. Mutations in these genes can lead to clinical disorders. Disorders of intermediary metabolism (such as fatty acid β‎-oxidation or tricarboxylic acid cycle defects) involve mitochondrial enzymes, but the term ‘mitochondrial disease’ usually means a disease whi...
Subjects
free text keywords: mitochondrial disease, genetic, treatment, diagnosis, Clinical Neurology, lcsh:Medicine, lcsh:R, lcsh:Medicine (General), lcsh:R5-920, medicine.disease, medicine, business.industry, business, Genetics
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