Isoenzymes of hexokinase in human muscular dystrophy

Abstract

OF the several genetically determined diseases called muscular dystrophy, the best known, most studied and most severe are the sex-linked Duchenne type and its more slowly progressing variant, the Becker type¹. The aetiology of these dystrophies is unknown, although dystrophies associated with deficiencies of vitamins and other nutrients are known in animals, and myopathy in man may arise from causes as diverse as alcoholism, thyrotoxicosis, infection and autoimmunity². Such variety of known myopathies gave little help to early searches for the biochemical cause of the genetically determined dystrophies³. Recent workers have turned to biochemistry in search of a specific lesion in protein synthesis and its control^4–6, or to tissues other than muscle, for example, its motor innervation^7–10 or vascular supply¹¹. Clearly, a genetic lesion must be translated into some change in protein synthesis, but this change will have other effects which will probably be more readily detectable. Other tissues besides muscle will be subject to the genetic changes which determine dystrophy, and may also show pathological signs.