Ragged-red fibers. A biochemical and morphological study

Abstract

Histochemical, ultrastructural and biochemical studies were performed on muscle biopsy specimens from a 30-year-old man with proximal limb weakness. Modified Gomori trichome stains of anterior tibial muscle revealed accumulations of red-staining material in the subsarcolemmal and intermyofibrillar regions of virtually every fiber (ragged-red fibers); these accumulations were rich in oxidative enzymes. Electron microscopy of this muscle showed that the red-staining areas consisted of large collections of abnormal-appearing mitochondria. Mitochondria isolated from the quadriceps muscle showed lack of respiratory control with alpha-glycerophosphate as substrate. However, the lack of respiratory control with alpha-glycerophosphate must be interpreted with caution since the quadriceps muscle was severely degenerated, and biochemical alterations of mitochondria may occur secondary to muscle degeneration itself. Nevertheless, this is the second reported case of lack of respiratory control with alpha-glycerophosphate in a patient with ragged-red fibers. Further interpretation of this defect and its significance must await more studies to determine whether this muscle mitochondrial abnormality is a common finding in the disorders in which ragged-red fibers are encountered.