Splicing mutation in TAZ gene leading to exon skipping and Barth syndrome

Barth syndrome is a monogenic X-linked disorder characterized by cardiomyopathy, skeletal myopathy and neutropenia. It is caused by deficiency of cardiolipin and associated with mutations in the tafazzin gene (TAZ). A 3 years old boy with dilated cardiomyopathy, neutropenia and growth retardation was investigated. Genetic screening found a new variant in the junction of intron 2 and exon 3 of the TAZ gene - c.239-1_239delinsTT. Functional analysis of the variant revealed the aberrant splicing of exon 3 leading to its complete excision from mature mRNA and frameshift at the beginning of tafazzin. Variant c.239-1_239delinsTT can be classified as pathogenic based on splicing alteration and typical clinical phenotype observed in TAZ mutation carriers

Pulsed Electric Discharge in Active Metallic Grains for Water Purification Processes

Chemical reactions in electric metal pulse dispersion in the aqueous solutions of inorganic substance (НSiO[3]{–}, Ni{2+}, Н[2]AsO[4]{–}, Mn{2+}, Cr[2]O[7]{2–}) were determined through IR spectroscopy, X-ray phase, chemical, kinetic, and thermodynamic analyses. Under such conditions, both reduction and oxidation reactions occur, as well as, locally initiated by heating, hydrolysis and exchange reactions without changing the oxidation rate of the dissolved substance itself. Reduction and oxidation of dissolved substances is determined by the generation and activation of high dispersed Fe in an electric discharge. Physical and chemical processes which take place under the action of pulse electric discharges upon the layer of metallic grains in salt solution, containing НSiO[3]{–}, Ni{2+}, Н[2]AsO[4]{–}, Mn{2+}, Cr[2]O[7]{2–} ions were determined on the basis of product composition, obtained experimentally and the thermodynamic data. It was shown, that PED discharge in heterogeneous mediums can be used for waste and natural water purification

Pulsed Electric Discharge in Active Metallic Grains for Water Purification Processes

Chemical reactions in electric metal pulse dispersion in the aqueous solutions of inorganic substance (НSiO[3]{–}, Ni{2+}, Н[2]AsO[4]{–}, Mn{2+}, Cr[2]O[7]{2–}) were determined through IR spectroscopy, X-ray phase, chemical, kinetic, and thermodynamic analyses. Under such conditions, both reduction and oxidation reactions occur, as well as, locally initiated by heating, hydrolysis and exchange reactions without changing the oxidation rate of the dissolved substance itself. Reduction and oxidation of dissolved substances is determined by the generation and activation of high dispersed Fe in an electric discharge. Physical and chemical processes which take place under the action of pulse electric discharges upon the layer of metallic grains in salt solution, containing НSiO[3]{–}, Ni{2+}, Н[2]AsO[4]{–}, Mn{2+}, Cr[2]O[7]{2–} ions were determined on the basis of product composition, obtained experimentally and the thermodynamic data. It was shown, that PED discharge in heterogeneous mediums can be used for waste and natural water purification

New deletion in LAMP2 causing familial Danon disease:effect of X-chromosome inactivation

Danon disease (DD), a rare X-linked genetic illness with a poor prognosis, is caused by a mutation in the lysosome-associated membrane protein 2 gene (LAMP2). Three main clinical features of this pathology are cardiomyopathy, skeletal myopathy, and mental retardation. Most Danon disease mutations create premature stop codons resulting in the decrease or absence of LAMP2 protein. The present case reports the frameshift variant c.190_191delАС in the LAMP2 in the family with sudden cardiac death history and three members with cardiomyopathy. The presenting phenotype in a female proband with c.190_191delАС was isolated dilated cardiomyopathy in her thirties whereas in two males, DD presented as hypertrophic cardiomyopathy and mild skeletal myopathy since childhood. To examine the contribution of X-inactivation to cardiomyopathy onset we estimated the X-inactivation status in the heart tissue of the affected female. We observed the random pattern (66:34) with the proportion of cardiomyocytes expressing healthy LAMP2 allele reduced to 34%. Deletion c.190_191delАС has led to a complete loss of function LAMP2 due to a single copy of this gene in males. In a woman, cardiomyopathy developed because of both the LAMP2 mutation and a decrease in the expression of a healthy allele in the heart. Based on the strong association of truncating LAMP2 mutations with DD and phenotypes in affected members, the variant c.190_191delАС was classified as pathogenic

The Social Significance of the Cluster in the Economy

Transition of the Russian Federation's policy to the innovative way of economic and social development is indispensable imperative to ensure its output to a leading position in the modern globalized world. Among the wide range of means, methods, forms, the mechanisms by which it is possible sharp acceleration of the process of formation of an innovative economy in our country, a special place belongs to the cluster approach. International scientific community is justified, and the practice of developed countries proved that the cluster approach to the structuring of the national economy and regional systems are an important source to improve production efficiency, increase its competitiveness, and increase public welfare. Questions of cluster formation and management of the development of the Russian economy in recent years, becomes the subject of numerous studies by Russian scientists - economists. Cluster policies are becoming increasingly recognized in public authorities. Moreover, there are already official documents, which examine the content and direction of the cluster policy. Keywords: society, cluster, economy, innovation, importance, competitiveness JEL Classifications: A19, O35, O3

Higher borides and oxygen-enriched Mg-B-O inclusions as possible pinning centers in nanostructural magnesium diboride and the influence of additives on their formation

The study of high pressure (2 GPa) synthesized MgB2-based materials allows us to conclude that higher borides (with near MgB12 stoichiometry) and oxygen-enriched Mg-B-O inclusions can be pinning centers in nanostructural magnesium diboride matrix (with average grain sizes of 15-37 nm). It has been established that additions of Ti or SiC as well as manufacturing temperature can affect the size, amount and distribution of these inclusions in the material structure and thus, influence critical current density. The superconducting behavior of materials with near MgB12 stoichiometry of matrix is discussed.Comment: 4 pages, 1 figues, presented at VORTEX VI-2009, accepted for Physica

Uniparental Genetic Heritage of Belarusians: Encounter of Rare Middle Eastern Matrilineages with a Central European Mitochondrial DNA Pool

Ethnic Belarusians make up more than 80% of the nine and half million people inhabiting the Republic of Belarus. Belarusians together with Ukrainians and Russians represent the East Slavic linguistic group, largest both in numbers and territory, inhabiting East Europe alongside Baltic-, Finno-Permic- and Turkic-speaking people. Till date, only a limited number of low resolution genetic studies have been performed on this population. Therefore, with the phylogeographic analysis of 565 Y-chromosomes and 267 mitochondrial DNAs from six well covered geographic sub-regions of Belarus we strove to complement the existing genetic profile of eastern Europeans. Our results reveal that around 80% of the paternal Belarusian gene pool is composed of R1a, I2a and N1c Y-chromosome haplogroups – a profile which is very similar to the two other eastern European populations – Ukrainians and Russians. The maternal Belarusian gene pool encompasses a full range of West Eurasian haplogroups and agrees well with the genetic structure of central-east European populations. Our data attest that latitudinal gradients characterize the variation of the uniparentally transmitted gene pools of modern Belarusians. In particular, the Y-chromosome reflects movements of people in central-east Europe, starting probably as early as the beginning of the Holocene. Furthermore, the matrilineal legacy of Belarusians retains two rare mitochondrial DNA haplogroups, N1a3 and N3, whose phylogeographies were explored in detail after de novo sequencing of 20 and 13 complete mitogenomes, respectively, from all over Eurasia. Our phylogeographic analyses reveal that two mitochondrial DNA lineages, N3 and N1a3, both of Middle Eastern origin, might mark distinct events of matrilineal gene flow to Europe: during the mid-Holocene period and around the Pleistocene-Holocene transition, respectively

Spectrum of Genetic Changes in Patients with Non-Syndromic Hearing Impairment and Extremely High Carrier Frequency of 35delG GJB2 Mutation in Belarus

The genetic nature of sensorineural hearing loss (SNHL) has so far been studied for many ethnic groups in various parts of the world. The single-nucleotide guanine deletion (35delG) of the GJB2 gene coding for connexin 26 was shown to be the main genetic cause of autosomal recessive deafness among Europeans. Here we present the results of the first study of GJB2 and three mitochondrial mutations among two groups of Belarusian inhabitants: native people with normal hearing (757 persons) and 391 young patients with non-syndromic SNHL. We have found an extremely high carrier frequency of 35delG GJB2 mutation in Belarus −5.7%. This point deletion has also been detected in 53% of the patients with SNHL. The 312del14 GJB2 was the second most common mutation in the Belarus patient cohort. Mitochondrial A1555G mt-RNR1 substitution was found in two SNHL patients (0.55%) but none were found in the population cohort. No individuals carried the A7445G mutation of mitochondrial mt-TS1. G7444A as well as T961G substitutions were detected in mitochondrial mt-RNR1 at a rate of about 1% both in the patient and population cohorts. A possible reason for Belarusians having the highest mutation carrier frequency in Europe 35delG is discussed