Expression of Dystrophin in Duchenne Muscular Dystrophy Patients after Myoblast Transplantation

Based on originally designed technique of myoblast cultivation and in accordance with the approved by the Russian Ministry of Health one muscle treatment protocol of myoblast transplantation to the Duchenne muscular dystrophy patients, the first in Russia clinical trial of this gene correction method was carried out. Immunologically related myoblast cultures (30 to 90 million cells per patient) were injected after all preliminary procedures into tibialis anterior muscles of four boys selected from a group of volunteer recipients (Duchenne muscular dystrophy patients) based on the analysis of a number of surface antigens in donor–recipient pairs. The condition of the patients remained satisfactory during the whole period of post-transplantation follow-up (from 6 months to 1.5 years). Six months after myoblast transplantation the presence of donor DNA or dystrophin synthesis was demonstrated in muscle biopsies of three out of four patients. This result confirms efficacy and safety of the procedure used.     

SNP-detecting DNA technologies: Solving problems of applied biochemistry

The heterozygosity of CANP3, ACTN3, and GHR genes in specialized collections was studied using state-of-the-art DNA technologies for DNA analysis. A new dinucleotide deletion (AC) at the beginning of exon 21 was identified in five individuals with a heterozygous CANP3 gene. Analysis of polymorphism (1747 C T) of the ACTN3 gene demonstrated a positive association of allele C with high muscular performance. Real-time PCR assay of SNP1630 (A C) in the GHR gene suggested a putative negative association of allele C of this SNP with high muscular performance.__________Translated from Prikladnaya Biokhimiya i Mikrobiologiya, Vol. 41, No. 3, 2005, pp. 303–307.Original Russian Text Copyright © 2005 by Krakhmaleva, Shishkin, Shakhovskaya, Stolyarova, Plugov, Knyazev, Khomenkov, Shevelev, Chernov.