J.R. Ricoy-Campo, A. Cabello
MITOCHONDRIOPATHIES Summary. Aims. The purposeof this study is to review different aspects of mitochondrial myopathies. Development. Mitochondrial DNA is differentto that found in the nucleus and is generally inherited through the mother. There are from 2 to 10 copies permitochondrion and hundreds or thousands of mitochondria per cell. It contains 37 genes. The oxidative phosphorylation systemconsists of five enzymatic complexes. Mitochondrial diseases can affect many organs but somewhat more frequent intissues that are physiologically more demanding as regards oxidative phosphorylation, such as the nervous system, the heartand skeletal muscle. Diagnosis of mitochondrial disease is performed by studying skeletal muscle because it is easilyaccessible and because of its dependence on oxidative metabolism; moreover, deficits in the respiratory chain areoften not expressed in cultivated fibroblasts. Conclusions. The bioptic muscle specimen must be frozen using isopentanefor later histochemical examination. For study under the electron microscope, a small sample must be set in [continua]
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