Basics of genetics

2013 ◽  
Author(s):  
Anne Barton
Keyword(s):  
Genetic Variation ◽  
Genetic Factors ◽  
Musculoskeletal Diseases ◽  
Disease Onset ◽  
Novel Therapies ◽  
Genetic Changes ◽  
Susceptibility Factors ◽  
Basic Concepts ◽  
Modern Technologies ◽  
Made In

Genetic factors are important in predisposing to nearly all of the conditions managed by rheumatologists; indeed, musculoskeletal diseases, like other complex diseases, are thought to be caused by environmental triggers in genetically susceptible individuals. Studying genetic susceptibility factors is more straightforward than environmental factors because, first, genetic changes are stable and do not vary throughout life; second, genetic changes exist before disease onset and so could be causative rather than occurring as a result of disease; and, third, genetic variation is easy to measure reliably using modern technologies. By comparison, environmental exposures can occur many years before disease onset, may vary during life, and are hard to accurately capture and measure. Enormous progress has been made in recent years in identifying susceptibility genes. This knowledge may allow better targeting of available therapies, the development of novel therapies, and an improved understanding of what determines disease severity in individual patients. In this chapter, the basic concepts in genetics are explained.

Basics of genetics

2013 ◽  
pp. 285-289
Author(s):  
Anne Barton
Keyword(s):  
Genetic Variation ◽  
Environmental Factors ◽  
Musculoskeletal Diseases ◽  
Disease Onset ◽  
Susceptibility Genes ◽  
Novel Therapies ◽  
Genetic Changes ◽  
Susceptibility Factors ◽  
Basic Concepts ◽  
Modern Technologies

Genetic factors are important in predisposing to nearly all of the conditions managed by rheumatologists; indeed, musculoskeletal diseases, like other complex diseases, are thought to be caused by environmental triggers in genetically susceptible individuals. Studying genetic susceptibility factors is more straightforward than environmental factors because, first, genetic changes are stable and do not vary throughout life; second, genetic changes exist before disease onset and so could be causative rather than occurring as a result of disease; and, third, genetic variation is easy to measure reliably using modern technologies. By comparison, environmental exposures can occur many years before disease onset, may vary during life, and are hard to accurately capture and measure. Enormous progress has been made in recent years in identifying susceptibility genes. This knowledge may allow better targeting of available therapies, the development of novel therapies, and an improved understanding of what determines disease severity in individual patients. In this chapter, the basic concepts in genetics are explained.

Molecular genetic pathways in Parkinson's disease: a review

2005 ◽  
Vol 109 (4) ◽  
pp. 355-364 ◽  
Author(s):  
Shushant Jain ◽  
Nicholas W. Wood ◽  
Daniel G. Healy
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Genetic Basis ◽  
Genetic Factors ◽  
Molecular Genetic ◽  
Mendelian Genetics ◽  
Susceptibility Factors ◽  
Increased Risk ◽  
Major Progress ◽  
Made In

Major progress has been made in the last decade in understanding the genetic basis of PD (Parkinson's disease) with five genes unequivocally associated with disease. As a result, multiple pathways have been implicated in the pathogenesis of PD, including proteasome impairment and mitochondrial dysfunction. Although Mendelian genetics has been successful in establishing a genetic predisposition for familial PD, this has not been reiterated in the sporadic form. In fact no genetic factors have been unequivocally associated with increased risk for sporadic PD. The difficulty in identifying susceptibility factors in PD has not only been because of numerous underpowered studies, but we have been unable to dissect out the genetic component in a multifactorial disease. This review aims to summarize the genetic findings within PD.

scholarly journals Azole-Resistance Development; How the Aspergillus fumigatus Lifecycle Defines the Potential for Adaptation

2021 ◽  
Vol 7 (8) ◽  
pp. 599
Author(s):  
Jianhua Zhang ◽  
Alfons J. M. Debets ◽  
Paul E. Verweij ◽  
Eveline Snelders
Keyword(s):  
Genetic Variation ◽  
Aspergillus Fumigatus ◽  
Scientific Work ◽  
Azole Resistance ◽  
Resistance Development ◽  
Genetic Changes ◽  
Genomic Changes ◽  
Metabolic Plasticity ◽  
Resistance Selection ◽  
Made In

In order to successfully infect or colonize human hosts or survive changing environments, Aspergillus fumigatus needs to adapt through genetic changes or phenotypic plasticity. The genomic changes are based on the capacity of the fungus to produce genetic variation, followed by selection of the genotypes that are most fit to the new environment. Much scientific work has focused on the metabolic plasticity, biofilm formation or the particular genetic changes themselves leading to adaptation, such as antifungal resistance in the host. Recent scientific work has shown advances made in understanding the natural relevance of parasex and how both the asexual and sexual reproduction can lead to tandem repeat elongation in the target gene of the azoles: the cyp51A gene. In this review, we will explain how the fungus can generate genetic variation that can lead to adaptation. We will discuss recent advances that have been made in the understanding of the lifecycle of A. fumigatus to explain the differences observed in speed and type of mutations that are generated under different environments and how this can facilitate adaptation, such as azole-resistance selection.

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.

scholarly journals VTRNA2-1: Genetic Variation, Heritable Methylation and Disease Association

2021 ◽  
Vol 22 (5) ◽  
pp. 2535
Author(s):  
Pierre-Antoine Dugué ◽  
Chenglong Yu ◽  
Timothy McKay ◽  
Ee Ming Wong ◽  
Jihoon Eric Joo ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Dna Methylation ◽  
Genetic Variation ◽  
Genetic Factors ◽  
Disease Association ◽  
Country Of Birth ◽  
Cpg Site ◽  
Multiple Case ◽  
Metastable Epiallele ◽  
Methylation Quantitative Trait Loci

VTRNA2-1 is a metastable epiallele with accumulating evidence that methylation at this region is heritable, modifiable and associated with disease including risk and progression of cancer. This study investigated the influence of genetic variation and other factors such as age and adult lifestyle on blood DNA methylation in this region. We first sequenced the VTRNA2-1 gene region in multiple-case breast cancer families in which VTRNA2-1 methylation was identified as heritable and associated with breast cancer risk. Methylation quantitative trait loci (mQTL) were investigated using a prospective cohort study (4500 participants with genotyping and methylation data). The cis-mQTL analysis (334 variants ± 50 kb of the most heritable CpG site) identified 43 variants associated with VTRNA2-1 methylation (p < 1.5 × 10−4); however, these explained little of the methylation variation (R2 < 0.5% for each of these variants). No genetic variants elsewhere in the genome were found to strongly influence VTRNA2-1 methylation. SNP-based heritability estimates were consistent with the mQTL findings (h2 = 0, 95%CI: −0.14 to 0.14). We found no evidence that age, sex, country of birth, smoking, body mass index, alcohol consumption or diet influenced blood DNA methylation at VTRNA2-1. Genetic factors and adult lifestyle play a minimal role in explaining methylation variability at the heritable VTRNA2-1 cluster.

Abstract 1805: Chromosome 9p21.3 Genetic Variation is Associated with Angiographic CAD but not with CAD Disease Burden

Circulation ◽  
2008 ◽  
Vol 118 (suppl_18) ◽  
Author(s):  
Chrissa P Mower ◽  
Jeffrey L Anderson ◽  
Benjamin D Horne ◽  
James J Park ◽  
Jesse L Coleman ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Disease Burden ◽  
Disease Onset ◽  
Cardiac Risk ◽  
Wild Type ◽  
Chi Square ◽  
High Risk Disease ◽  
Chi Square Test ◽  
Male Frequency ◽  
Cad Risk

Genetic variation at the 9p21.3 locus rs2383206 is associated with coronary heart disease (CHD) phenotypes. In a comparison of patients with and without angiographically confirmed CHD, the G allele of rs2383206 was present more frequently in diseased vs controls (normal angiograms). However, the pathophysiologic impact, whether it affects initiation, severity, or triggers an event, of the 9p21.3 locus remains unknown. We sought to determine whether 9p21.3 variation affects disease severity (promotion) by assessing its association with CAD burden. Methods: Genotyping for rs2383206 using 5′exonuclease chemistry (Taqman) was performed on 1759 subjects. Subjects were grouped as homozygous wild-type (low risk), heterozygous (intermediate risk) or homozygous risk-associated genotype (high risk). Disease burden was assessed by 1, 2, or 3 vessels; ≥70% stenosis and the validated Duke CAD Index (DCI). Comparison used a chi-square test (single vs multivessel disease) and analysis of variance (ANOVA) for the DCI comparison. Results: Average age 51.1± 7.4 years, 64.0% male. Frequency of the CAD risk allele did not differ among groups with 1, 2, or 3 vessel disease. There was no difference among groups with respect to the DCI. After adjustment for standard cardiac risk factors, the rs2383206 genotype was associated with CAD compared to controls (OR (CI)=1.73(1.26–1.85), p=0.001). Conclusion: The rs2383206 polymorphism was not associated with CAD disease burden. Findings suggest the rs2383206 polymorphism, although associated with disease onset is not likely involved in its progression. These findings will aid in refining the application of 9p21.3 for risk assessment and developing novel preventive and therapeutic strategies.

scholarly journals PROBLEMS OF RUSSIAN SCHOOL EDUCATION IN PISA CONTEXT

2021 ◽  
Vol 2 ◽  
pp. 656-667
Author(s):  
Iosif Zaia ◽  
Ekaterina Manuylova ◽  
Artur Gevorkyan ◽  
Pavel Nesterov ◽  
Sergei Gavrov
Keyword(s):  
International Student ◽  
Social Role ◽  
Student Assessment ◽  
School Teachers ◽  
Heterogeneous Information ◽  
International Student Assessment ◽  
Training Courses ◽  
Modern Technologies ◽  
Made In

The article based on the research which aim is to clear, how common teaching practices in Russian schools affecting the decline in the results of students when performing tasks of the Programme for International Student Assessment (PISA). The authors of the article try to understand why teachers so often prefer quite old training technologies. In the course of study these problems, members of research team conducted interviews and discussions with school teachers from the Moscow region who were trained in advanced training courses at the Academy of Public Administration. Intensive interaction with teachers helped the authors to draw a conclusion that the avoiding more effective contemporary training technologies is due to certain conditions in which the teacher works. Another conclusion made in the article: teachers fail in teaching students not because they do not have enough knowledge of modern technologies and techniques or because they underestimate the importance of developing critical thinking, anthropological imagination, knowledge of meta-subject connections, the skills to understand texts and work with heterogeneous information, but because they are not ready to accept the changing social role of the school. 

scholarly journals POLIMORFISME GEN ALPHA ACTININ-3 (ACTN 3) BERHUBUNGAN DENGAN MUSCLE PERFOMANCE ATLET

2019 ◽  
Author(s):  
Nila Wahyuni
Keyword(s):  
Genetic Variation ◽  
Environmental Factors ◽  
Gene Polymorphism ◽  
Genetic Factor ◽  
Genetic Factors ◽  
Muscle Performance ◽  
Professional Athletes ◽  
Force Of Contraction ◽  
Large Force ◽  
Literature Result

Background: The performance of professional athletes is very important for the achievement of athletes. The athlete's performance is influenced by various factors, namely environmental factors such as training, diet and sociocultural. One important factor that also affects the performance of athletes is genetic factor that are currently being studied. One of the genetic factors believed to play a role in athlete's performance is the Alpha Actinin-3 gene (ACTN 3). Purpose : to examine how the Alpha Actinin-3 (ACTN 3) gene polymorphism causes variation among individuals in athletic muscle performance. Method : study literature. Result : The ACTN 3 gene codes for the ?-actinin-3 protein which plays a role in producing a large force of contraction (rapid forceful contraction). The genetic variation of the ACTN 3 gene causes several variants of the ACTN 3 gene that play a role in the athlete's muscle performance.Keywords: Polymorphism, ACTN Gen 3, Muscle performance.

Searching for genes in Schizophrenia

1999 ◽  
Vol 11 (2) ◽  
pp. 50-53 ◽  
Author(s):  
D.B. Wildenauer ◽  
S.G. Schwab ◽  
W. Maier ◽  
B. Lerer
Keyword(s):  
Genetic Variation ◽  
Human Genome Project ◽  
Complex Traits ◽  
Genetic Factors ◽  
Genetic Disorders ◽  
Genome Project ◽  
Turn Of The Century ◽  
Adoption Studies ◽  
Targeted Treatments ◽  
The Human Genome Project

Decades of research into the etiology of schizophrenia on a phenotypic level, i.e. studies of neuroanatomy, neuropathology, neurophysiology and other areas such as immunology have yielded only fragmentary results. A contribution of genetic factors, has been consistently shown, however, beginning with E. Kraepelin's pioneering studies at the turn of the century. Evidence has accumulated from family-, twin-, and adoption studies. Identical twins have a 48% risk of developing schizophrenia if one of them is affected. In contrast, a 17 % risk is reported for nonidentical twins. These rates are similar to other complex genetic disorders such as diabetes, hypertension and asthma. Advances in the genetic analysis of complex traits as well as progress in the Human Genome Project should provide a basis for uncovering the molecular causes of schizophrenic disorders and for investigating the neuropathology of this individually and socially devastating neuropsychiatrie disorder. There is no doubt, that discovery of the genetic variation associated with the illness would help in identifying specific targets for development of more effective, targeted treatments.

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