Hereditary diseases of nervous system in the population of Vladimir province

The first population genetic study of hereditary disorders of the nervous system (HDNS) in Vladimir oblast was carried out. A total of 1,622,900 subjects, including 1,306,200 from the urban and 316,700 from the rural population, were tested. The population examined was characterized by virtually homogenous ethnic structure, with Russians constituting 95.76%. Pooled prevalence of HDNS in Vladimir oblast corresponded to the average prevalence for other Russian populations. Substantial differences between urban and rural populations in respect of the population load of HDNS and its nosological structure were not observed. A total of 22 nosological forms of HDNS were revealed, including thirteen autosomal dominant (193 families with 272 affected individuals), seven autosomal recessive (59 families with 66 affected individuals), and two X-linked (15 families with 17 affected individuals) diseases. The composition of the HDNS spectrum "nucleus" in Vladimir oblast displayed a number of differences from that in the majority of other populations examined. The HDNS in different regions of the area tested were characterized by different prevalence and spectrum. The data obtained may constitute a basis for regional registration of HDNS in Vladimir oblast.     

Hereditary Diseases of Nervous System in the Population of Vladimir Oblast

The first population genetic study of hereditary disorders of the nervous system (HDNS) in Vladimir oblast was carried out. A total of 1622900 subjects, including 1306200 from the urban and 316700 from the rural population, were tested. The population examined was characterized by virtually homogenous ethnic structure, with Russians constituting 95.76%. Pooled prevalence of HDNS in Vladimir oblast corresponded to the average prevalence for other Russian populations. Substantial differences between urban and rural populations in respect of the population load of HDNS and its nosological structure were not observed. A total of 22 nosological forms of HDNS were revealed, including thirteen autosomal dominant (193 families with 272 affected individuals), seven autosomal recessive (59 families with 66 affected individuals), and two X-linked (15 families with 17 affected individuals) diseases. The composition of the HDNS spectrum nucleus in Vladimir oblast displayed a number of differences from that in the majority of other populations examined. The HDNS in different regions of the area tested were characterized by different prevalence and spectrum. The data obtained may constitute a basis for regional registration of HDNS in Vladimir oblast.     

Zoobenthos communities and their seasonal dynamics in nonfreezing springs of Baikal region

The faunal composition, structure of the zoobenthos communities, and seasonal changes in two springs in the south of Irkutsk area are investigated. Both springs have the water temperature 4–5°C all year round. The fauna consists of widely distributed hydrobionts, crenobionts, stygobionts, and near-water organisms. Arctic relicts and elements of the Lake Baikal fauna are found. In macroinvertebrate communities, chironomid larvae dominate (by abundance and biomass), as do oligochaetes (by abundance). The lowest quantitative parameters are recorded in autumn-winter, and the highest parameters, in spring (March–April). Then they abruptly decline owing to emergence of amphibiotic insects. The structure of spring communities has regional specificity. By biomass of macrozoobenthos, the springs are comparable with mesotrophic and even eutrophic lakes.     

Dependence of the functional capacity of the cardiorespiratory system on the body mass in patients with coronary heart disease

The influence of excessive body mass on the development of cardiorespiratory deficiency was studied in patients with coronary heart disease (CHD). Basic parameters of hemodynamics and gas exchange were measured during a graded exercise test. In the CHD patients with excessive body mass, mean blood pressure, cardiac output, left ventricular power output, and left ventricular posterior wall thickness were significantly increased even at rest. During exercise, these patients displayed an increase in myocardial energy consumption and peripheral vascular resistance. It was concluded that an excess in body mass is critical when the increase in the body mass index (Quetelet’s index) exceeds the norm by 20%.     

Antiamyloid properties of fullerene C<Subscript>60</Subscript> derivatives

A comparative estimation of the ability of complexes of fullerene C₆₀ with polyvinylpyrrolidone and fullerene C₆₀ derivatives (the sodium salt of the polycarboxylic derivative of fullerene C₆₀, sodium fullerenolate), has been carried out. The fullerenes destroyed amyloid fibrils of the Aβ(1–42) peptide of the brain and the muscle X-protein. A study of the effect of fullerenes on muscle actin showed that complexes of fullerene C₆₀ with polyvinylpyrrolidone and sodium fullerenolate did not prevent the filament formation of actin, nor did they destroy its filaments in vitro. Conversely, sodium salt of the polycarboxylic derivative of fullerene C₆₀ destroyed actin filaments and prevented their formation. It was concluded that sodium fullerenolate and complexes of fullerene C₆₀ with polyvinylpyrrolidone are the most effective antiamyloid compounds among the fullerenes examined.     

New recurrent large deletion,encompassing both GJB2 and GB6 genes,results in isolated sensorineural hearing impairment with autosomal recessive mode of inheritance

Hereditary hearing loss with the autosomal recessive mode of inheritance with DFNB1 genetic type, caused by mutations in the GJB2 gene, is major cause of congenital non-syndromal hearing impairment in most developed countries of the world (including Russia). Intragenic point mutations prevail among the GJB2 gene defects; however, large deletions in the DFNB1 locus are also found with considerable frequency in some populations (for example, Spain, Great Britain, France, United States, and Brazil). Among the four known large deletions, only one deletion affects directly the GJB2 gene sequence and was described in a single family. A new large deletion encompassing both the GJB2 and GJB6 gene sequences of approximately 101 kb in size (NC_000013.10:g.20,757,021_20,858,394del), detected in three unrelated Russian patients, is described and characterized in this essay. Ingush origin of this mutation is assumed. If the new deletion is frequent, its detection is very important for the genetic consulting to families with hereditary hearing impairment.     

Genetic aspects of vitamin D-deficient rickets: genetic markers of blood]

Polymorphism of the AB0 blood groups, haptoglobin Hp, vitamin-D-binding protein (Gc), transferrin (Tf), alpha 1-antitrypsin (alpha 1-AT) and serum alkaline phosphatase (Pp) was studied in a group of children suffering from rickets (VDDR) and in a adequate control group of healthy individuals of the same sex-age composition. Considerable differences were revealed between the VDDR patients and healthy individuals in frequencies of the PIM1 and PIM2 factors on the alpha 1-AT system, r and p of the AB0 system as well as the Hp. Increase in a portion of one of the homozygotes for the Hp and for the alpha 1-AT system took place at the expense of other homozygote proportion (the latter being decreased). Heterozygotes frequencies remained intact in both compared groups. Atypical combination of phenotypes and gene frequencies was observed in a group of patients in the alpha 1-AT and AB0 systems as compared with usual distribution in European population. Higher frequencies of rare alleles of the loci under study were observed in the VDDR patients, which is partially reflected in increase in heterozygosity level in total within a cogort of patients analysed. Combination of the Hp 1-1 (Hp)--A(AB0)--M2M2 (alpha 1-AT) factors should be considered as unfavourable in rickets prognosis.