Mitigation of deleterious effects of certain abnormal genes in immature skeletal muscle cells

Abstract

In several congenital disorders of skeletal muscle, the deleterious effects or consequences of abnormal gene expression can be mitigated or negated in immature muscle fibers. In certain instances (e.g. glycogen phosphorylase deficiency) the molecular basis of this phenomenon is a persistence, in immature muscle cells, of a fetal isoenzyme whose catalytic activity is practically equivalent to that of the deficient enzyme, but which is encoded at a different genomic locus not affected by the mutation. In other genetic skeletal muscle diseases, such as Duchenne dystrophy and certain other animal dystrophies, the molecular mechanism by which the abnormal gene-induced damage of immature muscle cells can be moderated remains undetermined.