Biomedical subjects

M V Alfimova

Publications and source records attributed to M V Alfimova.

At least 19 recordsLinked to original sources

PubMed2006

[A genetic analysis of neurological symptoms in schizophrenic families].

To investigate an accumulation of certain neurological signs in patients with schizophrenia and their relatives and to estimate heritability of neurological abnormalities, 95 patients, 169 relatives and 35 healthy subjects have been studied using standardized clinical neurological examination. Neurological abnormalities in patients and their relatives did not form a constant and localized pattern and exerted an influence on various functions. A frequency of each symptom, with an exception of autonomic ones, was low both in families and controls. A total neurological index as well as generalized indices of 2 categories of most frequent disorders--motor and autonomic--did not reveal a significant genetic determination. Therefore, neurological symptoms detected during the clinical neurological examination of the relatives may be considered as markers of genetic risk for schizophrenia.

Adult↗

PubMed2006

[Acoustic evoked potentials, serotonin transporter gene polymorphism and some psychopathological and psychological features in patients with schizophrenia and their relatives].

Serotonin transporter gene is known to be implicated with various psychological and psychiatric phenotypes. The present study aimed at searching for relationship of the gene polymorphism 5-HTTLPR to personality traits and P300 wave in patients with schizophrenia (n = 71) and their non-psychotic relatives (n = 74). To reduce an influence of the P300 amplitude range, which may vary widely in population, subjects have been divided into 2 groups: with amplitude higher (group m+) and lower (group m-) than a mean sample value. Between-amplitude differences were highly significant (p < 0.0001) for all the leads. The groups were similar by age, sex ratio and emotional level measured with personality inventories. When compared by 5-HTTLPR genotype, mean P300 amplitude values were similar in the group m-. In the group m+, significant differences for this component were found between the II genotype and the ss genotype at frontal (p = 0.02) and central (p = 0.005) leads, with the ss genotype subjects having the lowest amplitude. Subjects with the ss genotype in this group as compared to those with the II genotype were also featured by higher anxiety- and depression-related personality traits in relatives and marked clinical symptoms related to anxiety and depression in patients. The fact that association between 5-HTTLPR polymorphism and with P300 amplitude as well as personality traits was found only in the group with higher amplitudes, but not in the group with lower amplitudes, may be partly explained by the assumption that these groups represent different phenotypes. Subjects with inherent lower amplitude are thought to have reduced ability of behavior self-regulation. In conclusion, 5-HTTLPR polymorphism seems to contribute to information processing related to P300 generation and to anxiety and depression traits in patients with schizophrenia and their relatives.

Adult↗

PubMed2006

[Dopamine system genes interaction and neurocognitive traits in patients with schizophrenia, their relatives and healthy controls from general population].

To elucidate main effects of dopamine receptor D4 (DRD4) and cathecol-O-methyltransferase (COMT) genes as well as their interaction effect on neurocognitive traits, DRD4 gene polymorphisms (-809G/A, -521C/T) and the COMT gene Val158Met polymorphism, along with characteristics of verbal memory, executive functions and peculiarities of associative processes, have been studied in 150 patients with schizophrenia, 83 their relatives and 118 mentally healthy subjects without positive family history of psychosis. A main effect of -521C/T polymorphism and DRD4 (-521C/T).Vall58Met polymorphisms interaction were found for verbal fluency, carriers of the Val/Val+CC and the Met/Met+TT genotypes performing better on this task as compared to other genotypes. An interaction DRD4 (-521C/T).Val158Met effect on originality of speech associations was observed in the combined group of unaffected individuals (relatives and controls), with lower scores of the trait in those with the Met/Met+CC genotype. The COMT-DRD4 (-809G/A) interaction effect on working memory was demonstrated for patients and unaffected individuals, homozygotes for the Val and the G alleles having the best results and homozygotes for the Met and the A alleles--the worst ones. The data obtained suggest the relationship of DRD4 and COMT genes with different characteristics of executive functions but not with verbal memory.

Adult↗

PubMed2005

[Polymorphic markers of the dopamine D4 receptor gene promoter region and personality traits in mentally healthy individuals from the Russian population].

The dopamine receptor gene D4 is a highly polymorphic gene, which, according to a number of studies, is associated with the personality traits characterizing human activity. Earlier, a VNTR polymorphic marker in exon 3 and single-nucleotide polymorphism in the promoter region were shown to be associated with novelty seeking. However, these results were not supported by all subsequent studies, which suggest a possible effect of other polymorphic regions of this gene. The aim of the present work was studying the effect of gene DRD4 on activity-related human personality traits in Russians, using in association analysis three polymorphic markers of this gene (-809 G/A, -616 C/G, and -521 C/T) and psychological traits assessed by various tests. Genotyping and psychological examination were conducted in 220 mentally healthy subjects (131 individuals lacking hereditary load of psychic diseases and 89 relatives of patients with psychoses). In Russians, allele frequencies of all markers proved to have no significant difference from the corresponding estimates for European populations. The markers examined were in linkage equilibrium. We have found a significant contribution of genotypes -521 C/T and -809 G/A to the expression of extraversion (Eysenck Personality Inventory (EPI), P = 0.0016) and variation of scores of the Social Introversion scale (Minnesota Multiphase Personality Inventory (MMPI), P = 0.0085). Genotypes -521 C/T and -616 C/G had a joint effect on scores on the Hypomania scale (P = 0.04), while their effect on extraversion was recorded as a trend (P = 0.054). Thus, the results of this study in general support the evidence by other authors showing association of polymorphism at the DRD4 gene promoter to personality traits. We have shown that the traits in question were mainly related to social activity. A reduction in social activity is associated largely with the T(-521 C/T) allele, characterized by low transcription rate.

Adult↗

PubMed2005

[Peculiarities of EEG dynamics in cognitive activity demanding persistent attention in patients with schizophrenia and schizoaffective psychosis and their relatives].

The search for neurophysiologic correlates of attention and working memory dysfunction in families with schizophrenia, 55 patients with schizophrenia and schizoaffective psychosis, 91 unaffected first degree relatives and 48 mentally normal subjects without family history of mental disorders have been studied. Changes in power of 5 EEG frequency bands in 16 records during serial mental arithmetic tasks were analyzed. Abnormalities in EEG reactivity were found both in patients and their relatives. Both groups were characterized by diffuse elevation of delta-rhythm power, the signs of hypoactivation and inversion of reaction asymmetry for different rhythm bands in the frontal area. In relatives, more pronounced attention dysfunction corresponded to more expressed abnormalities in EEG reactivity. Moreover, patients demonstrated insufficient depression of alpha and fast waves activity in the posterior cortex areas relevant to arithmetic activity. The results obtained allow considering an impaired reaction of alpha and fast rhythms inhibition in the posterior cortex areas as characteristic of the disease, and diffuse elevation of delta-waves power and frontal lobe hypoactivation with the inversion of reaction asymmetry as familial features that might reflect an impact of the factors predisposing to psychosis. This predisposition emerged during the cognitive task involving sustained attention and working memory.

Adult↗

PubMed2005

[Dopamine receptor DRD4 gene polymorphism and its association with schizophrenia spectrum disorders and personality traits of patients].

A vast body of associative studies reported a role of highly polymorphic dopamine receptor DRD4 gene in regulation of emotional processes and development of mental disorders. The present study addresses allele, genotype and haplotype distribution of 3 polymorphic DRD4 markers (-809G/A, -616G/C N -521C/T) in Russian patients with schizophrenia spectrum disorders and their relation to the disease and personality traits. A sample included 151 patients with iCD-10 diagnosis of schizophrenia, schizoaffective psychosis and schizotypal personality disorders, 89 their first-degree non-psychotic relatives and 131 mentally healthy individuals. No differences in allele and genotype frequency was found between the patients and the controls. Transmission disiquilibrium test (TDT) did not reveal a preferential transmission of either allele from parents to proband. The 521C/T N -616G/C markers were linked to the disease when the EH program has been used in the analysis. Patients with the GG (-809G/A) and GG (-616G/C) genotypes had higher scores on the Hypomania scale (MMPI) comparing to the GA(-809G/A)+AA(-809G/A) and GC(-616G/C)+CC(-616G/C) genotypes but the association did not reach a level of significance (p = 0.06). The results confirmed the literature reports on the relation of the DRD4 gene to schizophrenia and personality traits related to social activity.

Adult↗

PubMed2005

[A study of some genes related to serotoninergic and dopaminergic systems and auditory evoked-potentials (P300) in patients with schizophrenia and spectrum disorders and their first-degree relatives].

The changes of P300 parameters (lower amplitude and increased latency) are thought to be the most prominent phenomena of schizophrenia. A role of gene polymorphism in P300 generation was supported by several associative studies in psychiatrically well subjects and patients with mental disorders. We studied P300 parameters and the following polymorphisms: T102C for the serotonin receptor type 2A (5-HTR2A) gene, the 5-HTTLPR for the serotonin transporter gene, -809G/A, -616G/C N -52C/T SNPs in the promoter region of the dopamine D4 receptor (DRD4) gene and the Val158Met polymorphism of the catechol-O-methyltransferase (COMT) in 74 patients with schizophrenia and spectrum disorders and 71 their first-degree relatives. No association was found between serotonergic system genes and P300. The -809G/A DRD4 gene polymorphism was related to amplitude in all frontal leads (p=0,01) in patients. In relatives, an association was observed between -521C/T DRD4 variants and latency (p=0,005) as well as between the COMT gene polymorphism and P300 amplitude (p=0,004) at the central lead. Thus, the genes involved in dopaminergic system play a role in P300 generation both in patients with schizophrenia and spectrum disorders and their relatives.

Adolescent↗

PubMed2004

Serotonin transporter polymorphism and depressive-related symptoms in schizophrenia.

A role for the serotonin transporter (5-HTT) gene polymorphism in mental illnesses and anxiety-traits has been implicated. The contribution of genetic factors in personality traits and the manifestation of specific symptoms in psychiatric illnesses have yet to be elucidated. Anxious-depressive symptoms are a significant component in a pattern of schizophrenic symptoms. This study focused on the relation between 5-HTT polymorphism and clinical presentations of schizophrenia, specifically those related to the affective spectrum. Using clinical and psychological analyses, we tested the genetic association between the 5-HTTLPR polymorphism (5-HTT gene-linked polymorphic region) and anxiety- and depressive-related symptoms emerged in schizophrenia. In 260 patients with an ICD-10 diagnosis of schizophrenia (broad definition), we studied the 5-HTTLPR genotype (insertion-deletion polymorphism), the Positive and Negative Syndrome Scale (PANSS), and self-rated inventories (EPI, MMPI, STAI) scores. Patients with the "ss" genotype (deletion variant) scored significantly higher on "Guilt feelings" and "Depression" items, as compared with those of the "ll" genotype (insertion variant) (P = 0.016, 0.039, respectively). The frequency of the "ss" genotype was reduced in patients with no depression or guilt feelings, or in those patients exhibiting questionable symptoms. In contrast, the "ss" genotype carriers prevailed among the patients with mild, moderate, or severe ratings of the symptoms. The scores on all anxiety- and depression-related traits, self-rated by the patients, did not significantly differ by genotype. Our finding may contribute to understanding of molecular genetic features underlying an appearance of psychopathological symptoms emerged in schizophrenia.

Adult↗

PubMed2004

[Genetic counseling in the Mental Health Research Center of the Russian Academy of Medical Sciences].

Current concepts on the role of genetic factors in the development of schizophrenia and on the relative risk for this disease and spectrum disorders are reviewed. An analysis of the results of genetic counseling of 120 subjects revealed that, comparing to other mental disorders, patients with schizophrenia or relatives, mostly those having a schizophrenic parent (40%) or spouse (25%), referred more frequently for a consultation. Most of the referrals (70%) had a high educational level. As it was found out during the counseling, up to 20% of the relatives met a diagnosis of psychiatric disorders, mostly personality disorder (9%) and depressive state (7%). Psychological testing with personality inventories revealed a high level of personality abnormalities (schizoid--22%, hyperthymic--16% and obsessive-anxiety--4%) in 43% close relatives of patients seeking medicogenetic advice. The genetic counseling featured by the use of the comprehensive approach, basing on all obtained data (psychiatric, psychological, neurophysiologic etc.), that increases its accuracy and may assist families in taking a reasonable decision in birth planning.

Academic Medical Centers↗

PubMed2003

[Gene insertion and deletion polymorphism in the serotonin transporter gene and personality traits measured by MMPI].

Polymorphisms of the serotonin transporter gene are known to be associated with some personality traits measured by means of various psychological inventories. In the present work we attempted to find an association between genetic variants of serotonin transporter (loci VNTR-17 and 5-HTTLPR) and psychological traits scored by the MMPI inventory in 125 mentally healthy donors. No statistically significant differences in personality traits were found between carriers of different VNTR-17 genotypes. At locus 5-HTTLPR, significant between-genotype differences were revealed on the Schizophrenia scale (F = 3.49; P = 0.034) and on the validity scale F (F = 3.24; P = 0.042). The ss genotype carriers had the lowest scores on these scales. The score on the Psychopathic Deviate scale was significantly lower in the carriers of the ss genotype than in the combined group of the carriers of genotypes ll and ls (t = 2.07; P = 0.041). The differences on the validity scale K between the carriers of the ll and ss genotypes were also statistically significant (t = 2.49; P = 0.015). These results suggest that polymorphism of the serotonin transporter gene may be associated with the expression of schizoid traits (namely, social introversion, internal tension, weird thoughts and actions) in mentally healthy individuals. In the context of social adaptation, the personality profile configuration and data of statistical analysis indicate that the carriers of the ss genotype are more inclined to observe social norms than the carriers of the ll and ls genotypes.

Adolescent↗

PubMed2003

[Psychological mechanisms of communication disorders in schizophrenics and their relatives].

The study aimed at searching for mechanisms of communicative impairments in patients with schizophrenia and their relatives. To evaluate a contribution of attention and memory to communication efficacy and to ability for understanding mental states of others, 100 patients with schizophrenia and schizoaffective psychosis, 150 their healthy relatives and 145 controls have been studied. The results confirmed a presence of communicative deviations in the patients with schizophrenia and their relatives. In these groups, communication deficit was determined by disturbance of 1 out of 4 communication principles--the principle of information quantity. Attention and memory did not exert any significant influence on communication efficacy in the patients and their relatives. Distinct deterioration of fulfilling the tasks demanding mentalizing ability was found only in the patients. However, no correlation was revealed between this deterioration and communication peculiarities.

Adult↗

PubMed2003

[Polymorphism of serotonin receptor gene 5-HTR2A and schizotypic traits in mentally healthy subjects].

Serotonin receptor type 2 (5-HTR2A) polymorphism was consistently reported to be related to schizophrenia and some clinical presentations of the disease. The present study aimed at searching for association between 5-HTR2A polymorphism and schizotypic personality traits being considered as recognized phenotype predisposing to schizophrenia. Relationship between these features measured by SPQ-74 and two 5-HTR2A polymorphic loci has been studied in mentally healthy community sample (n = 64). Significant difference was found between AG and GG genotype carriers on No-close-friends scale (t = 2.3; p = 0.03), with GG scoring higher on this item. Also, a trend towards higher scores on this scale (p = 0.08) was observed in women, but not in men, with A2A2 genotype. To a certain extent, the results confirm a hypothesis articulated in the study of G-allele and A2-allele relation to interpersonal relationship factor of SPQ-74.

Adolescent↗

PubMed2002

5HTR2A gene polymorphism and personality traits in patients with major psychoses.

Serotonin receptor (5HTR2A) gene polymorphism has been reported to be associated with clinical phenotypes in schizophrenia. The current study attempted to investigate a relationship between 5HTR2A 102T/C polymorphism and personality traits as well as clinical symptoms in patients with ICD-10 diagnoses of schizophrenia and affective disorders. 5HTR2A genotyping, clinical and psychological assessment were administered to 375 patients, 104 first-degree healthy relatives of the patients and 157 controls. In the patients an association was observed between the 2/2 5HTR2A genotype and scores on the Hypochondriasis scale (MMPI) (ANOVA, F = 4.56; P = 0.011) and trait anxiety (F = 4.21; P = 0.002). A significant difference between 1/1 and 2/2 genotypes has been also found for Neuroticism scores (EPI) (t = 2.18; P = 0.0031). No significant differences by 5HTR2A genotype were observed in either the control or first-degree relatives group for all scales studied. Positive, negative and psychopathological symptoms emerged higher in the 2/2 genotype patients compared to other genotype carriers. Therefore, the 2/2 genotype may contribute to produce the phenotype, with specific clinical and pathological features in common, regardless of nosologic heterogeneity of psychoses.

Adult↗

PubMed2002

[Allele polymorphism of the serotonin transporter gene and clinical heterogeneity of depressive disorders].

Depression disorders are a clinically heterogeneous disease group. Their development is to a substantial extent underlain by dysfunction of the serotonin system, in particular, disturbed serotonin transport. The heterogeneity of depressions is associated, among other factors, with the age at disease onset. Allele polymorphism of the serotonin transporter (5-HTT) gene was tested for association with age at disease onset, clinical signs, and anxiety-related traits of depression patients. A sample included 77 patients (mean age 61.2 +/- 8.8 years) with late-onset depression (LOD, mean age at onset 56.58 +/- 9.7 years) and 74 patients (mean age 31.0 +/- 11.8 years) with early-onset depression (EOD, mean age at onset 23.9 +/- 7.4 years). In genotype frequency distribution of two 5-HTT gene polymorphism, the LOD and EOD groups did not differ from each other (chi 2 = 0.33, P = 0.85 for VNTR-17; chi 2 = 3.33, P = 0.19 for HTTLPR) and from a control group (chi 2 = 0.34, P = 0.84 for VNTR-17; chi 2 = 2.1, P = 0.35 for HTTLPR). In either group, patients differing in VNTR-17 and HTTLPR genotypes did not differ in psychological traits and, in particular, in anxiety-related traits. In the case of the HTTLPR polymorphism, LOD patients with genotype ss tended to display less severe neuroticism (t = 2.03, P = 0.0507) and scored significantly less on the Hamilton depression scale (t = 2.19, P = 0.039). Thus, the 5-HTT gene polymorphisms do not affect the risk of depression but is possibly associated with specific clinical signs of the disease, at least in elderly patients.

Age of Onset↗

PubMed2002

[Neuromorphologic and psychological correlates of electrical brain activity in patients with schizophrenia and their relatives].

The study aimed at elucidation of potential correlations between EEG features, neuromorphologic and psychological characteristics in patients with schizophrenia and in subjects with familial predisposition to the disease. EEG has been conducted in 71 patients, 162 first-degree relatives of schizophrenia subjects and 67 healthy controls. In the patients and relatives, correlations of power indices for 7 frequency ranges of resting EEG with computed tomography and cognitive parameters were analyzed. The patients revealed negative correlations between slow EEG rhythms and sizes of bodies as well as of posterior horns of lateral ventricules. Positive correlations were shown between expression of alpha- and beta-bands and verbal memory. In the relatives, an increase of slow and fast EEG rhythms power correlated with reduction of sizes of ventricular system regions studied and with deterioration of cognitive indices (mental activity, attention, memory). Overall, the data obtained indicate negative functional consequences of slow and fast EEG rhythms power augmenting in subjects at high genetic risk for schizophrenia, but do not confirm a hypothesis that ventricular enlargement causes EEG slowing in schizophrenia.

Adult↗

PubMed2001

Relationship between IFN-gamma production by blood lymphocytes and constitutional personality features of patients with idiopathic mitral valve prolapse.

Psychological testing using Eysenck Personality Inventory and immunological testing of 75 patients with idiopathic mitral valve prolapse revealed low production of interferon-gamma by blood lymphocytes and a correlation between interferon-gamma production and patient's temperament. Low neuroticism and extroversion scores were found in patients with normal interferon-gamma production. High neuroticism score was detected in 82% patients with lowest interferon-gamma production, which refers these patients to a group at high immunological risk and prompts the use of interferon and/or its inductors in complex therapy of these patients.

Adult↗

PubMed2001

[Serotonin type 2a (5-HTR2A) receptor gene polymorphism and personality traits in patients with endogenous psychoses].

Genetic polymorphism of the serotonin receptor (5-HTR2A) gene has been reported to be associated with the expression of clinical signs characteristic of major psychoses, including schizophrenia and affective disorders. In this study, personality traits of patients with these diseases and the associations of these traits with 5-HTR2A allelic polymorphisms were studied. It was demonstrated that schizophrenic and affective patients with the 2/2 genotype of serotonin receptor had lower scores on the anxiety scale and on the anxiety-related hypochondriasis and neuroticism scales than subjects with the 1/1 and 1/2 genotypes.

Adolescent↗

PubMed2001

[Personality disorders diagnosed psychometrically in relatives of patients with schizophrenia and schizoaffective disorders].

By means of MMPI test 287 healthy relatives of 159 patients with schizophrenia and schizoaffective disorders were examined. Anomalies of personality were found in 44% of 287 relatives examined, that did not differ significantly from the same index (36% of 179) in the control group of healthy individuals without any family history of mental diseases. A cluster analysis has revealed that anomalies of personality in the patients relatives can be divided into the next types: schizoid (15%), sociopathic (7%), masculine, superrational (5%) and neurotic (16%). In most of schizoid relatives anomalies of personality were reflected by the 2-7-8 profile of personality that differed them from schizoid personalities in control group. On the basis of both the results obtained and literature data it was suggested that together with the schizoid relatives, the relatives with sociopathic features should be included in the schizophrenic risk group, while anomalies of personality of both neurotic and superrational types were the reactions to the stress in families of the patients with schizophrenia.

Adult↗