MITOCHONDRIA–RELATED ENCEPHALOMYOPATHIES

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Abstract
Owing to advances in morphological and biochemical techniques, the mitochondria–related myopathies and encephalomyopathies have emerged as a still rapidly growing group of primary and secondary metabolic disorders, which may extend from infancy to late adulthood. Impairment of the biochemically diversified mitochondria is reflected in an enormous number of deficiencies, often affecting several mitochondrial enzymes in the same patient; morphologically abnormal mitochondria are common and are thus not specific to individual mitochondrial enzyme deficiencies. Skeletal muscle biopsies have provided a wealth of data through histological and histochemical studies and from isolated mitochondria. As a similar abundance of biochemical and morphological findings has not been obtained from brain tissue in mitochondrial encephalomyopathies, investigation of these disorders is still in its infancy; interpretation of these conditions and their encephalopathic components has largely been based on comparison of data not derived from brain tissues. Therefore, it has been, and still is, largely the link between an encephalopathy and an associated mitochondrial myopathy that identifies the brain lesions as clinical and morphological expressions of a mitochondrial defect. As enzyme histochemical and electron microscopic investigations of mitochondrial encephalopathies have not yielded a comparable rich spectrum of morphological findings, it is conceivable that the spectrum of mitochondrial encephalopathies may be much larger than defined by the hitherto identified encephalomyopathies. This may be especially so when the myopathic component is of minor nosological significance.