Severe disorganization at the stage of schizophrenia clinical outcome is associated with the set of specific biological and social-psychological characteristics that indicate its epigenetic nature and maladaptive social significance.

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.

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Alloplasmic lines are a suitable model for studying molecular coevolution and interrelations between genetic systems of plant cells. Whole chloroplast (cp) and mitochondrial (mt) genome sequences were obtained by the MiSeq System (Illumina). Organelle DNA samples were prepared from a set of 12 alloplasmic barley lines with different cytoplasms of Hordeum vulgare ssp. spontaneum and H. vulgare ssp. vulgare, as well as from their paternal varieties. A bioinformatic approach for analysis of NGS data obtained on an organellar DNA mix has been developed and verified. A comparative study of Hordeum organelle genomes’ variability and disposition of polymorphic loci was conducted. Eight types of chloroplast DNA and 5 types of mitochondrial DNA were distinguished for the barley sample set examined. These results were compared with the previous data of a restriction fragment length polymorphism (RFLP) study of organelle DNAs for the same material. Formerly established data about a field evaluation of alloplasmic barley lines were revised in the light of information about organelle genomes gained after NGS. Totally 17 polymorphic loci were found at exons of chloroplast genomes. Seven of the SNPs were located in the genes of the Ndh complex. The nonsynonymous changes of nucleotides were detected in the matK, rpoC1, ndhK, ndhG and infA genes. Some of the SNPs detected are very similar in codon position and in the type of amino acid substitution to the places where RNA editing can occur. Thus, these results outline new perspectives for the future study of nuclear-cytoplasmic interactions in alloplasmic lines.

A unique feature of �lants is the �resence of two extranuclear genomes�� chloro�lasts and mitochondria. The chloro�last genome is relatively small�� 100-120 genes�� which encode less than 5 % of all �roteins required for �lastids to function. The c�DnA ex�res-sion retains �ro�aryotic features�� cotranscri�tion in the o�eron�� bacteria-li�e rnA �olymerases and �romoters�� �0S ribosomes etc.�� also new characters a��ear such as uncou�ling of transcri�tion with translation�� �hage-ty�e rnA �olymerases�� rnA editing�� and s�licing of �rimary transcri�ts. The interaction of the nucleus (nuclear genomes� and cyto�lasm (�lastid and mitochondrial genes� during �lant develo�ment is necessary for �ro�er develo�ment and ada�tation to the environment. The aim of this review is to disclose the �eculiarities of �lastid genome ex�ression. The way the genetic information in chloro�lasts is used (transcri�tion�� editing�� s�licing�� �olyadenylation and translation� is consequently described. Furthermore�� the im�ortance of all ex�ression machinery com�onents in �lant life is discussed. Modern a��roaches for rnA �ool study are described and critical �oints of nuclear-cyto�lasmic interaction in the functions of chloro�lasts are revealed. The information about the most im�ortant factors of nuclear-cyto�lasmic signaling in higher �lants (sigma factors and PPr �roteins encoded by the nucleus� are reviewed. Thus�� the multilevelness and viability of �lastid genome ex�ression regulation in �lant cells and interde�endence of the �rocesses in different com�artments is �roved. A summary of the latest studies of the ex�ression of the �lastid genome using genetic chi�s (microarrays�� macroarrays� is �rovided. original results are �resented.Key words�� сhloro�last; �lastids; ex�ression; transcri�tion; rnA �olymerases; editing; s�licing; translation; microarray; macroarray. уникал��ным свойством растений является нали�ие�� кроме генома ядра�� двух внеядерных геномов в хлоропластах и митохондриях. Геном хлоропластов относител��но невелик -100-120 генов�� которые кодиру�т менее 5 % всех нео�ходимых для функциони-рования пластид �елков. Экспрессия генома пластид сохраняет �ерты прокариот�� котранскрипци� генов в составе оперона�� сходные c �актериями РН��-полимеразы и промоторы�� присутствие �0S ри�осом�� однако появля�тся и новые свойства�� транскрипция�� не сопряженная c трансляцией�� фагоподо�ные РН��-полимеразы�� РН�� эдитинг и сплайсинг транскриптов. Взаимодействие ядра (генома ядра� и цитоплазмы (генома пластид�� митохондрий� в процессе развития растител��ного организма а�сол�тно нео�ходимо для полноценного развития растения�� адаптации (пласти�ности� к факторам окружа�щей среды. В о�зоре о�о�щены современные представления о� осо�енностях экспрессии генома пластид в клетке. �оследовател��но показано�� �то происходит при реализации генети�еской информации генома пластид в хлоропластах (транскрипции�� эдитинге�� сплайсинге�� полиаденилировании�� трансляции� и как отсутствие каких-ли�о компонентов отражается на функционировании растител��ной ...

Introduction:Clinical polymorphism of schizophrenia, defined by Liddle in three classic psychopathological dimensions (psychotic symptoms, disorganization, negative symptoms) is based on factor analysis strategy and casts doubt on the idea of common nature of disease's classical symptoms within a single specific process. The search for biological determinants (endophenotypes, risk alleles) of psychopathological dimensions of schizophrenia represents an actual task, nevertheless the system of gene expression regulation (DNA methylation) is still underinvestigated in this aspect.Aim:To explore the association between C677T polymorphism of MTHFR gene – the key enzyme for methionine synthesis – and psychopathological dimensions of schizophrenia in repetitive episode of illness relapse.Methods:SAPS\SANS questionnaires were used for clinical assessment of patients, many years suffering from schizophrenia (mean illness duration 16,4±9,9 years); PCR genotyping strategy was used to identify allelic variants of MTHFR.Results:Mean score of dimension ‘disorganization’ was almost twice higher (18,26 vs.10,91, p<0,05) in group of T-allele carriers with lower enzymatic activity of MTHFR (mostly due to such symptoms as derailment, tangentiality, incoherence, circumstantiality, logorrhea, distractibility, also SANS sign ‘inappropriate affect’).Conclusion:Genetically determined dysregulation of methylation patterns in brain can mediate specific biochemical and electrophysiological ‘shifts’ and result in specific abnormalities of thinking and behavior in schizophrenia. Neurocognitive and neurophysiological dysfunction underlying such linkage is under further investigation

Background:The splice site nucleotide substitution IVS1+1G>A in the non-coding part of the GJB2 gene is one of the recessive pathogenic mutations causing nonsyndromic sensorineural hearing loss (NSHL). We present here the results of a study of IVS1+1G>A among Belarusian patients with NSHL as well as among Belarusian controls with normal hearing. Material and methods:The PCR-RFLP method was used for genotyping. All tested patients were subdivided into three groups: those who carried only one mutant allele of GJB2 exon 2 (group A, 28 patients), those with no mutation of GJB2 exon 2 (group B, 150 patients), and patients with two mutations previously detected in the second exon of GJB2 or with one mutation and a large GJB6 deletion ∆D13S1830 (group C, 223 patients). Also 300 Belarusian people with normal hearing were screened for IVS1+1G>A.Results: We detected 7 patients with IVS1+1G>A mutation in the A group, which explained hearing loss in 25% of this deafness cohort. None of the B or C group patients carried the IVS1+1G>A mutation. We also did not find any IVS1+1G>A mutation carriers among the 300 Belarusian control people with normal hearing.Conclusions: IVS1+1G>A is the third-most frequent mutation (after 35delG and 312del14) among Belarusian patients with NSHL; its rate is 1.8% for the patient cohort we studied and the population frequency is below 0.33%. We propose to include the IVS1+1G>A mutation into a laboratory screening protocol for those patients with NSHL that carry one mutant allele of GJB2 exon 2.