Yasuko Hagiwara

Mutations in the Dystrophin-Associated Protein γ-Sarcoglycan in Chromosome 13 Muscular Dystrophy

Severe childhood autosomal recessive muscular dystrophy (SCARMD) is a progressive muscle-wasting disorder common in North Africa that segregates with microsatellite markers at chromosome 13q12. Here, it is shown that a mutation in the gene encoding the 35-kilodalton dystrophin-associated glycoprotein, γ-sarcoglycan, is likely to be the primary genetic defect in this disorder. The human γ-sarcoglycan gene was mapped to chromosome 13q12, and deletions that alter its reading frame were identified in three families and one of four sporadic cases of SCARMD. These mutations not only affect γ-sarcoglycan but also disrupt the integrity of the entire sarcoglycan complex.

Iron supports myogenic cell differentiation to the same degree as does iron-bound transferrin.

T. Hasegawa, K. Saito, I. Kimura, and E. Ozawa (1981, Proc. Jopan Acad. B 57, 206-210) have shown that Fe ion can promote myogenic cell growth as Fe-bound transferrin. In the present work, the effects of these substances in supporting myogenic cell differentiation were examined. The hallmarks of differentiation adopted were appearance of structural and regulatory proteins, myofibrils, sarcoplasmic reticulum, and Ca-activated activities of myosin B and phosphorylase kinase; isoform transition of creatine kinase; and acquisition of cell membrane excitability and contractility following electrical stimulation of myotubes. The degree of differentiation of myotubes cultured in the presence of Fe ion was almost the same as that of myotubes cultured in the presence of Fe-bound transferrin. These facts suggest that transferrin protein molecules do not play a primary role in differentiation. Further, it has also been shown that myotubes acquire excitation-contraction and metabolism coupling qualitatively similar to that of adult muscle fiber.

Class Specificity of Avian and Mammalian Sera in Regards to Myogenic Cell Growth in vitro

Chick myogenic cells grew in the presence of a small amount of avian serum in a culture medium composed of Eagles minimum essential medium (MEM) and horse serum. Mammalian sera, except for fetal bovine serum at high concentrations, could not substitute for the avian serum.

Chick Embryo Extract, Muscle Trophic Factor and Chick and Horse Sera as Environments for Chick Myogenic Cell Growth

Chick myogenic cells grew in a medium composed of Eagles minimum essential medium (MEM), horse serum (HS), and one of the essential factors needed for myogenic cell growth (EFMG), that is, chick embryo extract (EE), chick serum (CS), or the muscle trophic factor (MTF). But they did not grow in the absence of the EFMG. In the absence of HS, they scarcely grew in a medium composed of MEM, and EE or MTF. They grew in a medium composed of MEM and CS; they grew much better in a medium composed of MEM, CS, and HS.