[Dystrophin gene expression in patients with Duchenne muscular dystrophy after myoblast transplantation]. / Ekspressiia gena distrofina u bol'nykh miodistrofiei Diushenna posle transplantatsii mioblastov.

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. Immonologically 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.

[A databank on Russian families with hereditary neuromuscular diseases]. / Bank dannykh o rossiiskikh sem'iakh s nasledstvennymi nervno-myshechnymi zabolevaniiami.

The information about 5 thousands Russian families with hereditary neuromuscular disorders (HNMD) was collected by means of both different genetic epidemiological methods and authors' own observations. On the basis of this material a computer database MYODYS in Excel 5.0 format was created, which included information about 30 different signs concerning 1920 families from 70 regions of Russia. The study of the data, included in MYODYS, revealed several problems in practical diagnosis of HNMD in Russia. It is necessary to resolve these important problems for correct genetic consulting and treatment. MYODYS database may serve as a basis for elaboration of a special complex programme for long-term support of the families with NNMD in Russia.

[The use of low doses of prednisolone for the treatment of patients with Duchenne-Becker myodystrophy]. / Primenenie malykh doz prednizolona dlia lecheniia bol'nykh miodistrofiei Diushenna--Bekkera.

A special program for long-term application of low-dose prednisolone treatment in Duchenne-Becker muscular dystrophy with complex control of the patients' state was developed. Three-month cycles of prednisolone treatment alternated with three-month cycles of placebo during the year. Each patient received 0.5 mg/kg per day of treatment but with taking in account the alternate days, the daily dose diminished to 0.25 mg/kg/per day. 50 patients with Duchenne-Becker muscular dystrophy participated in this randomized double-blind controlled trial and up to now 3 of them were on the program about 1.5 year and 24 of them--about a year. Preliminary results show some beneficial effects in the absence of manifest side-effects.

[Polymorphism of exon 4 in the CANP-3 gene in patients with primary myopathies]. / Polimorfizm ékzona 4 v gene CANP-3 u bol'nykh pervichnymi miopatiiami.

The structures of the gene for calpain (CANP-3) and of the DMD gene were analyzed in patients with primary myopathies [limb-girdle muscular distrophy (LGMD) and Duchenne-Becker myodystrophy (DBM)] from various regions of Russia. Via amplification of DNA isolated from the peripheral blood lymphocytes of 74 patients, extended deletions were found in 18 out of 55 patients with DBM. In none of the 19 patients with LGMD, were extended deletions in the CANP-3 gene found. In most patients with LGMD, the amplification of the promoter region and exons 1, 2, 3, 4, 5, and 6 of the CANP-3 gene yielded a single product of corresponding length, but in six patients (three sib pairs), amplification of exon 4 of the CANP-3 gene yielded two products of different size. The following single-strand conformation polymorphism (SSCP) analysis revealed a pronounced polymorphism of exon 4 of the CANP-3 gene in 14 out of 19 patients with LGMD. This structure of exon 4 of the CANP-3 gene was found neither in 16 patients with DBM who had deletions in the DMD gene nor in 16 patients with DBM who had no deletions in the DMD gene.