Молекулярная биология менингиом головного мозга

2017 ◽  
pp. 82-91
Author(s):  
В.А. Бывальцев ◽  
И.А. Степанов ◽  
Е.Г. Белых ◽  
А.И. Яруллина
Keyword(s):  
Gene Therapy ◽  
Proton Therapy ◽  
Genetic Factors ◽  
Intracranial Tumor ◽  
Molecular Profile ◽  
Genetic Changes ◽  
Treatment Techniques ◽  
Downstream Effects ◽  
Si Rna ◽  
The Relationship

Цель обзора - анализ современных данных литературы о нарушении внутриклеточных сигнальных путей, играющих ведущую роль в развитии менингиом, генетических и молекулярных профилях данной группы опухолей. К настоящему времени изучено множество аберрантных сигнальных внутриклеточных путей, которые играют важнейшую роль в развитии менингиом головного мозга. Четкое понимание поврежденных внутриклеточных каскадов поможет изучить влияние генетических мутаций и их эффектов на менингиомогенез. Подробное исследование генетического и молекулярного профиля менингиом позволит сделать первый уверенный шаг в разработке более эффективных методов лечения данной группы интракраниальных опухолей. Хромосомы 1, 10, 14, 22 и связанные с ними генные мутации ответственны за рост и прогрессию менингиом. Предполагается, что только через понимание данных генетических повреждений будут реализованы новейшие эффективные методы лечения. Будущая терапия будет включать в себя комбинации таргетных молекулярных агентов, в том числе генную терапию, малые интерферирующие РНК, протонную терапию и другие методы воздействия, как результат дальнейшего изучения генетических и биологических изменений, характерных для менингеальных опухолей. Meningiomas are by far the most common tumors arising from the meninges. A myriad of aberrant signaling pathways involved with meningioma tumorigenesis, have been discovered. Understanding these disrupted pathways will aid in deciphering the relationship between various genetic changes and their downstream effects on meningioma pathogenesis. An understanding of the genetic and molecular profile of meningioma would provide a valuable first step towards developing more effective treatments for this intracranial tumor. Chromosomes 1, 10, 14, 22, their associated genes, have been linked to meningioma proliferation and progression. It is presumed that through an understanding of these genetic factors, more educated meningioma treatment techniques can be implemented. Future therapies will include combinations of targeted molecular agents including gene therapy, si-RNA mediation, proton therapy, and other approaches as a result of continued progress in the understanding of genetic and biological changes associated with meningiomas.

Invited Review: Pharmacogenetics of estrogen replacement therapy

2001 ◽  
Vol 91 (6) ◽  
pp. 2776-2784 ◽  
Author(s):  
David M. Herrington ◽  
Karen Potvin Klein
Keyword(s):  
Estrogen Replacement Therapy ◽  
Genetic Factors ◽  
Estrogen Receptor Α ◽  
Estrogen Replacement ◽  
Risk Gene ◽  
Thrombosis Risk ◽  
Venous Thromboembolic Events ◽  
Venous Thromboembolic ◽  
Relationship Of ◽  
The Relationship

There are a number of genetic factors that likely modulate both the beneficial and adverse effects of estrogen. An important domain of consideration is the relationship of estrogen and thrombosis risk. Gene polymorphisms among the key elements of the coagulation and fibrinolytic cascade appear to influence the effects of estrogen on risk for venous thromboembolic events and possibly arterial thrombosis as well. Emerging data also suggest that allelic variants in the estrogen receptor-α may modulate estrogen's effects, especially with respect to bone and lipid metabolism.

scholarly journals Role of the relationship between dyslipidemia and genetic factors in the development of atherosclerosis

2013 ◽  
Vol 34 (suppl 1) ◽  
pp. P708-P708
Author(s):  
S. Hata ◽  
M. Nakazato ◽  
T. Sekita ◽  
T. Maeda ◽  
T. Kanda
Keyword(s):  
Genetic Factors ◽  
The Relationship

Association of apolipoprotein E and myeloperoxidase genotypes to clinical course of familial and sporadic multiple sclerosis

2004 ◽  
Vol 10 (3) ◽  
pp. 266-271 ◽  
Author(s):  
B Zakrzewska-Pniewska ◽  
M Styczynska ◽  
A Podlecka ◽  
R Samocka ◽  
B Peplonska ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Apolipoprotein E ◽  
Brain Atrophy ◽  
Genetic Factors ◽  
Clinical Course ◽  
Progression Rate ◽  
Disease Course ◽  
Familial Cases ◽  
Sporadic Cases ◽  
The Relationship

The importance of apolipoprotein E (ApoE) and myeloperoxidase (MPO) genotypes in the clinical characteristics of multiple sclerosis (MS) has been recently emphasized. In a large group of Polish patients we have tested the hypothesis that polymorphism in ApoE and MPO genes may influence the course of the disease. G enotypes were determined in 117 MS patients (74 females and 43 males; 99 sporadic and 18 familial cases) with mean EDSS of 3.6, mean age of 44.1 years, mean duration of the disease 12.8 years and mean onset of MS at 31.2 years, and in 100 healthy controls. The relationship between ApoE and MPO genes’ polymorphism and the MS activity as well as the defect of remyelination (diffuse demyelination) and brain atrophy on MRI were analysed. The ApoE o4 allele was not related to the disease course or the ApoE o2 to the intensity of demyelination on MRI. The genotype MPO G/G was found in all familial MS and in 57% (56/99) of sporadic cases. This genotype was also related to more pronounced brain atrophy on MRI. The MPO G/G subpopulation was characterized by a significantly higher proportion of patients with secondary progressive MS (PB- 0.05) and by a higher value of EDSS. A ccording to our results the MPO G allele is frequently found (in 96% of cases) among Polish patients with MS. More severe nervous tissue damage in the MPO G/G form can be explained by the mechanism of accelerated oxidative stress. It seems that MPO G/G genotype may be one of the genetic factors influencing the progression rate of disability in MS patients.

scholarly journals Twin Study of the Relationship between Childhood Negative Emotionality and Hyperactivity/Inattention Problems

2021 ◽  
Vol 24 (1) ◽  
pp. 7-13
Author(s):  
Yoon-Mi Hur ◽  
Hoe-Uk Jeong
Keyword(s):  
Genetic Factors ◽  
Environmental Influences ◽  
Model Fitting ◽  
Negative Emotionality ◽  
Phenotypic Correlation ◽  
Environmental Correlation ◽  
South Korean ◽  
Telephone Interviews ◽  
Opposite Sex ◽  
The Relationship

AbstractThe present study aimed to determine the genetic and environmental etiology of the association between childhood negative emotionality (NE) and hyperactivity/inattention problems (HIP) using South Korean elementary school twins (mean age = 10.19 years, SD = 1.79 years). Telephone interviews were given to mothers of 919 twins (229 monozygotic males: 112 pairs and 5 individuals; 148 dizygotic males: 73 pairs and 2 individuals; 180 monozygotic females: 87 pairs and 6 individuals; 103 dizygotic females: 50 pairs and 3 individuals; 259 opposite-sex dizygotic twins: 127 pairs and 5 individuals) to assess their children’s NE and HIP. Consistent with prior studies, the phenotypic correlation between NE and the HIP was moderate (r = .29; 95% CI = .24, .34). Model-fitting analysis revealed that additive genetic and nonshared environmental influences on NE were .45 (95% CI [.34, .54]) and .55 (95% CI [.46, .66]), respectively, and that additive and nonadditive genetic, and nonshared environmental influences on HIP were .08 (95% CI [.03, .26]), .41 (95% CI [.21, .51]) and .51 (95% CI = .42, .61), respectively. In addition, the additive genetic correlation between NE and HIP was 1.0 (95% CI [.52, 1.00]), indicating that additive genetic factors are entirely shared between the two phenotypes. Nonadditive genetic influences were unique to HIP and not responsible for the NE-HIP association. Nonshared environmental correlation was significant but modest (re = .18, 95% CI [.06, .30]).

Cardiovascular risks in patients with psoriasis (literature review)

2021 ◽  
pp. 12-17
Author(s):  
A. A. Hotko ◽  
N. S. Rudneva
Keyword(s):  
Oxidative Stress ◽  
Genetic Factors ◽  
Mortality Rates ◽  
Cardiovascular Risks ◽  
Cvd Risk Factors ◽  
Cvd Risk ◽  
Cardiovascular Pathology ◽  
Lipoprotein Composition ◽  
And Function ◽  
The Relationship

The article is of an overview nature and contains up-to-date information on comorbid cardiovascular pathology in psoriasis. Various studies have shown that psoriasis is associated with a higher prevalence of CVD risk factors, including hypertension, diabetes mellitus, dyslipidemia, obesity, and metabolic syndrome. The relationship between the severity of psoriasis and the risk of cardiovascular disease, as well as the prognostic risks with mortality rates, are discussed. Proposed common pathogenetic mechanisms include genetic factors, inflammatory pathways, adipokine secretion, insulin resistance, lipoprotein composition and function, angiogenesis, oxidative stress, and hypercoagulability.

scholarly journals The relationship of genetic factors to the development of nephrolithiasis in primary hyperparathyroidism

2015 ◽  
Author(s):  
Elena Peretokina ◽  
Natalia Mokrysheva ◽  
Lyudmila Rozhinskaya ◽  
Ekaterina Zakharova
Keyword(s):  
Primary Hyperparathyroidism ◽  
Genetic Factors ◽  
Relationship Of ◽  
The Relationship

scholarly journals Molecular profile reveals immune-associated markers of medulloblastoma for different subtypes

2021 ◽  
Author(s):  
shenglan li ◽  
Zhuang Kang ◽  
jinyi Chen ◽  
Can Wang ◽  
Zehao Cai ◽  
...  
Keyword(s):  
Immune Cell ◽  
Intracranial Tumor ◽  
Cell Infiltration ◽  
Molecular Profile ◽  
Immune Cell Infiltration ◽  
Ppi Network ◽  
Hub Genes ◽  
Data Set ◽  
Hub Gene ◽  
External Data

Abstract Background Medulloblastoma is a common intracranial tumor among children. In recent years, research on cancer genome has established four distinct subtypes of medulloblastoma: WNT, SHH, Group3, and Group4. Each subtype has its own transcriptional profile, methylation changes, and different clinical outcomes. Treatment and prognosis also vary depending on the subtype. Methods Based on the methylation data of medulloblastoma samples, methylCIBERSORT was used to evaluate the level of immune cell infiltration in medulloblastoma samples and identified 10 kinds of immune cells with different subtypes. Combined with the immune database, 293 Imm-DEGs were screened. Imm-DEGs were used to construct the co-expression network, and the key modules related to the level of differential immune cell infiltration were identified. Three immune hub genes (GAB1, ABL1, CXCR4) were identified according to the gene connectivity and the correlation with phenotype in the key modules, as well as the PPI network involved in the genes in the modules. Results The subtype marker was recognized according to the immune hub, and the subtype marker was verified in the external data set, the methylation level of immune hub gene among different subtypes was compared and analyzed, at the same time, tissue microarray was used for immunohistochemical verification, and a multi-factor regulatory network of hub gene was constructed. Conclusions Identifying subtype marker is helpful to accurately identify the subtypes of medulloblastoma patients, and can accurately evaluate the treatment and prognosis, so as to improve the overall survival of patients.

scholarly journals The genetic factors involved in functional food efficacy on cardiovascular disease etiology

SURG Journal ◽  
2019 ◽  
Vol 11 ◽  
Author(s):  
Maarij Siddiqi
Keyword(s):  
Risk Factors ◽  
Cardiovascular Disease ◽  
Nutritional Value ◽  
Functional Foods ◽  
Genetic Factors ◽  
Dietary Guidelines ◽  
Disease Etiology ◽  
Modifiable Factor ◽  
Health And Disease ◽  
The Relationship

While the impacts of modifiable and non-modifiable risk factors on chronic diseases such as cardiovascular disease (CVD) are widely established, the interactions between such coexisting risk factors and their subsequent effects on the promotion or suppression of CVD are less known. As part of the diet, functional foods are considered a modifiable factor that influence health beyond their basic nutritional value. The relationship between these functional foods and the underlying genome, along with their joint implication in health and disease, forms the focus of the emerging field of nutrigenomics. Reviewed in this paper are some prominent gene-diet interactions demonstrated in CVD etiology. Specifically, the interaction between foods such as phytosterols and isoflavones with genetic factors of the consuming population are examined in relation to CVD. By determining how nutritional intake affects genetics and vice versa, we create the potential to offer improved dietary guidelines to certain individuals, subgroups, or populations in order to maximize health benefits of specific diets.

scholarly journals Twin studies for the investigation of the relationships between genetic factors and brain abnormalities in bipolar disorder

2016 ◽  
Vol 25 (6) ◽  
pp. 515-520 ◽  
Author(s):  
L. Squarcina ◽  
C. Fagnani ◽  
M. Bellani ◽  
C. A. Altamura ◽  
P. Brambilla
Keyword(s):  
Bipolar Disorder ◽  
Family Environment ◽  
Brain Structure ◽  
Genetic Factors ◽  
Genetic Research ◽  
Twin Studies ◽  
Neural Mechanisms ◽  
Shared Environment ◽  
High Heritability ◽  
The Relationship

The pathogenesis of bipolar disorder (BD) is to date not entirely clear. Classical genetic research showed that there is a contribution of genetic factors in BD, with high heritability. Twin studies, thanks to the fact that confounding factors as genetic background or family environment are shared, allow etiological inferences. In this work, we selected twin studies, which focus on the relationship between BD, genetic factors and brain structure, evaluated with magnetic resonance imaging. All the studies found differences in brain structure between BD patients and their co-twins, and also in respect to healthy controls. Genetic effects are predominant in white matter, except corpus callosum, while gray matter resulted more influenced by environment, or by the disease itself. All studies found no interactions between BD and shared environment between twins. Twin studies have been demonstrated to be useful in exploring BD pathogenesis and could be extremely effective at discriminating the neural mechanisms underlying BD.

scholarly journals The association between body dysmorphic symptoms and suicidality among adolescents and young adults: a genetically informative study

2020 ◽  
pp. 1-9
Author(s):  
Georgina Krebs ◽  
Lorena Fernández de la Cruz ◽  
Frühling V. Rijsdijk ◽  
Daniel Rautio ◽  
Jesper Enander ◽  
...  
Keyword(s):  
Suicidal Ideation ◽  
Regression Models ◽  
Genetic Factors ◽  
Body Dysmorphic Disorder ◽  
Early Adulthood ◽  
Self Report ◽  
Logistic Regression Models ◽  
Substantial Risk ◽  
The Relationship ◽  
Report Measure

Abstract Background Previous research indicates that body dysmorphic disorder (BDD) is associated with risk of suicidality. However, studies have relied on small and/or specialist samples and largely focussed on adults, despite these difficulties commonly emerging in youth. Furthermore, the aetiology of the relationship remains unknown. Methods Two independent twin samples were identified through the Child and Adolescent Twin Study in Sweden, at ages 18 (N = 6027) and 24 (N = 3454). Participants completed a self-report measure of BDD symptom severity. Young people and parents completed items assessing suicidal ideation/behaviours. Logistic regression models tested the association of suicidality outcomes with: (a) probable BDD, classified using an empirically derived cut-off; and (b) continuous scores of BDD symptoms. Bivariate genetic models examined the aetiology of the association between BDD symptoms and suicidality at both ages. Results Suicidal ideation and behaviours were common among those with probable BDD at both ages. BDD symptoms, measured continuously, were linked with all aspects of suicidality, and associations generally remained significant after adjusting for depressive and anxiety symptoms. Genetic factors accounted for most of the covariance between BDD symptoms and suicidality (72.9 and 77.7% at ages 18 and 24, respectively), but with significant non-shared environmental influences (27.1 and 22.3% at ages 18 and 24, respectively). Conclusions BDD symptoms are associated with a substantial risk of suicidal ideation and behaviours in late adolescence and early adulthood. This relationship is largely explained by common genetic liability, but non-shared environmental effects are also significant and could provide opportunities for prevention among those at high-risk.

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