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Biomedical subjects

S S Shishkin

Publications and source records attributed to S S Shishkin.

At least 19 recordsLinked to original sources
PubMed2006

Polymorphism of delta3,5-delta2,4-dienoyl-coenzyme A isomerase (the ECH1 gene product protein) in human striated muscle tissue.

Two polymorphic variants of the ECH1 gene product protein (delta3,5-delta2,4-dienoyl-coenzyme A isomerase) have been revealed by proteomics methods in samples of human striated muscle tissue. These variants are identical in molecular weight (29.7 kD) but different in pI values (6.57 and 6.75) and in amino acid substitution (41 E-->A) confirmed by mass spectrometry. The same type of polymorphism has been detected in samples of different tissues of the same person, so these variants are considered (also based on other data) to be allelic. The rates of these alleles in two representative cohorts of Moscow and Minsk residents are similar.

Adult↗
PubMed2004

Proteomic studies of human and other vertebrate muscle proteins.

This review summarizes results of some systemic studies of muscle proteins of humans and some other vertebrates. The studies, started after introduction of two-dimensional gel electrophoresis of O'Farrell, were significantly extended during development of proteomics, a special branch of functional genomics. Special attention is paid to analysis of characteristic features of strategy for practical realization of the systemic approach during three main stages of these studies: pre-genomic, genomic (with organizational registration of proteomics), and post-genomic characterized by active use of structural genomics data. Proteomic technologies play an important role in detection of changes in isoforms of various muscle proteins (myosins, troponins, etc.). These changes possibly reflecting tissue specificity of gene expression may underline functional state of muscle tissues under normal and pathological conditions, and such proteomic analysis is now used in various fields of medicine.

Animals↗
PubMed2003

Comparison of cytotoxicity of aminoglycoside antibiotics using a panel cellular biotest system.

The cytotoxicity of four aminoglycoside antibiotics was studied by estimation of the dose-effect relationship using a panel cellular biotest system including cell cultures for test objects. The cultures represented 4 differentiation types: normal human fibroblasts and myoblasts, human or Syrian hamster hepatoma cells, and mouse/mouse hybridoma cells. It was found that three widely used antibiotics gentamicin, kanamycin, and neomycin exhibit similar, but not identical cytotoxicity parameters and differ distinctly from geneticin. Hence, the proposed panel biotest system helps to quantitatively evaluate and differentiate the effects of bioactive substances with similar chemical structure.

Aminoglycosides↗
PubMed2002

[Clinical polymorphism, genetic heterogeneity and primary myopathy pathogenesis problems].

The peculiarities of clinic picture of primary myopathies with general gene defects, in particular differences in disease debut, dystrophy severity and degree of diverse muscle group's involvement in the dystrophic process, were analyzed. An attention was drawn specially to the cases of similar and identical mutations, including family cases, which gave rise to dramatically different pathological phenotypes. This information, along with the Becker muscular dystrophy cases (with deletions of DMD gene), describing the patients, aged 55 to 60 years, who maintained a certain movement activity, allow to revise an absolutely severe prognosis of primary myopathies and to stimulate primary myopathy pathogenesis studies. Hypothesis of "second" factors in primary myopathy's pathogenesis is discussed.

Adolescent↗
PubMed2002

[From structural to functional genomics: theoretical and applied aspects].

The paper considers the results of studies of human genome and several eukariotic genomes, which have led to the establishment of the new genetic subject Structural Genomics and some other scientific areas. Particular attention is given to Proteomics considered to be the most developed section of Functional Genomics. The systems approach is ascertained to underlie proteomic strategy to study the protein products of gene expression with an ultimate goal of drawing up complete protein indices for definite organisms, such as proteomes, human proteomes in particular. The studies carried out at the Research Center of Medical Genetics, Russian Academy of Medical Sciences, have been used as an example to show that advances in Functional Genomics and the data of proteomic studies may be employed both for solution of theoretical problems and for different applied purposes (for development of diagnostic methods, for control of products derived from genetically modified plants, as well as during cellular therapy).

Genome, Human↗
PubMed2001

Matrix metalloproteinases of normal human tissues.

This review considers biochemical properties of the family of matrix metalloproteinases (MMPs) of normal human tissues and the involvement of these enzymes in morphogenesis. Four main MMP subfamilies are characterized, and a group of other MMPs is described. Data on mechanisms of activation and inhibition of MMPs in certain tissues during various physiological processes (embryogenesis, angiogenesis, tissue growth and involution) are considered. Information about tissue inhibitors of MMP is presented, and the ability of these inhibitors to regulate the activity of MMPs is analyzed.

Humans↗
PubMed2001

Cell culture test system for express analysis of cytotoxic and growth-stimulating effects of bioactive compounds.

Cultures of human and mammalian cells presenting 4 types of differentiation (normal human fibroblasts and myoblasts, human and Syrian hamster hepatoma cells, and mouse/mouse hybridoma cells) were used in a panel biotest system. This system allowed to evaluate the cytotoxic and stimulatory effect of bioactive compounds by determining the dose-effect relationships and some quantitative parameters including LD(50). Examination of some biolactive compounds of different nature (sangviritrin, escin, deltostim, cycloheximide, dexamethasone) confirmed high efficacy of this biotest system.

Animals↗
PubMed2001

[Dystrophin gene expression in patients with Duchenne muscular dystrophy 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. 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.

Antigens, Surface↗
PubMed2000

High incidence of 550delA mutation of CAPN3 in LGMD2 patients from Russia.

Autosomal recessive limb gird muscular dystrophy (LGMD2) is a clinically and genetically heterogeneous group of diseases that are characterized by progressive atrophy and weakness of the proximal limb muscles. At least eight genetic loci leading to LGMD2 are recognized. The proportion of particular gene involved in producing different forms of LGMD2 shows a marked geographical variation. We studied 19 LGMD2 patients from Russia (15 families) and found calpain 3 (CAPN3) gene mutations in most of the patients studied. Sequence analysis of the fourth exons revealed two sibs - heterozygous compound for a 15-bp deletion (nt598-612) and 550 adenine deletion, and two sibs homozygous for a 550delA. We developed assay based on allele specific amplification (ASA) for rapid screening of the 550delA. The ASA assay of the LGMD2 patients under study showed that 7 patients from 6 families were homozygous for 550delA and 7 patients from 4 families were heterozygous for 550delA. A linkage analysis employing four microsatellites flanking the LGMD2A locus was performed. We found complete haplotype identity in most cases what favors the possibility of a common founder. Heterozygous carriers of 550delA were found in general population. The crude estimate of the mutation frequency is 1/150. Hum Mutat 15:295, 2000.

Calpain↗
PubMed2000

Use of cultured human fibroblasts for rapid evaluation of cytotoxic effects of bioactive substances.

A test system for detecting cytotoxic effects of bioactive substances based on human fibroblast culture is proposed. The effects of acrylamide, streptomycin, cycloheximide, sodium dodecyl sulfate, sanguiritrine, and ethanol were evaluated by organic stain binding. Typical dose-effect relationships were detected for all substances except cycloheximide. The proposed test system can be used for screening of bioactive substances in preclinical trials.

Cell Culture Techniques↗
PubMed1999

[The dystrophin gene structure in patients with Duchenne myodystrophy].

The study was performed of the alterations within 17 exons and promoter region of dystrophin gene by means of multiplex DNA amplification in boys of Slavonic population with clinical diagnosis of muscular Duchenne's dystrophy. The dystrophin gene's deletions were found in different exons of 11 boys from 33 examined families, that is in 33% of the families. In 8 cases the deletions were clustered near a central part of dystrophin gene.

Adolescent↗
PubMed1999

[A databank on Russian families with hereditary neuromuscular diseases].

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.

Commonwealth of Independent States↗
PubMed1999

[The use of low doses of prednisolone for the treatment of patients with Duchenne-Becker myodystrophy].

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.

Adolescent↗
PubMed1999

A new protein of human atrium.

The partial amino acid sequence (23 amino acid residues) of a protein isolated from human atrium has been determined. The sequence homology shows that this protein belongs to the myosin 1 light chain family (an atrium-specific isoform).

Amino Acid Sequence↗
PubMed1999

[Polymorphism of exon 4 in the CANP-3 gene in patients with primary myopathies].

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.

Calpain↗