From the clinic to the research laboratory. The role of the clinician in molecular genetic studies

1993 ◽  
Vol 129 (11) ◽  
pp. 1424-1429
Author(s):  
S. E. Palmer
Keyword(s):  
Research Laboratory ◽  
Molecular Genetic ◽  
Genetic Studies

scholarly journals Prospects for the Personalized Multimodal Therapy Approach to Pain Management via Action on NO and NOS

Molecules ◽  
2021 ◽  
Vol 26 (9) ◽  
pp. 2431
Author(s):  
Natalia A. Shnayder ◽  
Marina M. Petrova ◽  
Tatiana E. Popova ◽  
Tatiana K. Davidova ◽  
Olga P. Bobrova ◽  
...  
Keyword(s):  
Chronic Pain ◽  
Molecular Genetic ◽  
Pain Syndrome ◽  
Medical Problem ◽  
Single Nucleotide Variants ◽  
Genetic Studies ◽  
Pain Syndromes ◽  
Nos Inhibitors ◽  
Peripheral Pain

Chronic pain syndromes are an important medical problem generated by various molecular, genetic, and pathophysiologic mechanisms. Back pain, neuropathic pain, and posttraumatic pain are the most important pathological processes associated with chronic pain in adults. Standard approaches to the treatment of them do not solve the problem of pain chronicity. This is the reason for the search for new personalized strategies for the prevention and treatment of chronic pain. The nitric oxide (NO) system can play one of the key roles in the development of peripheral pain and its chronicity. The purpose of the study is to review publications devoted to changes in the NO system in patients with peripheral chronical pain syndromes. We have carried out a search for the articles published in e-Library, PubMed, Oxford Press, Clinical Case, Springer, Elsevier, and Google Scholar databases. The search was carried out using keywords and their combinations. The role of NO and NO synthases (NOS) isoforms in peripheral pain development and chronicity was demonstrated primarily from animal models to humans. The most studied is the neuronal NOS (nNOS). The role of inducible NOS (iNOS) and endothelial NOS (eNOS) is still under investigation. Associative genetic studies have shown that single nucleotide variants (SNVs) of NOS1, NOS2, and NOS3 genes encoding nNOS, iNOS, and eNOS may be associated with acute and chronic peripheral pain. Prospects for the use of NOS inhibitors to modulate the effect of drugs used to treat peripheral pain syndrome are discussed. Associative genetic studies of SNVs NOS1, NOS2, and NOS3 genes are important for understanding genetic predictors of peripheral pain chronicity and development of new personalized pharmacotherapy strategies.

scholarly journals The role of genetic research with family design in the study of affective disorders

2019 ◽  
pp. 106-108
Author(s):  
E. D. Kasyanov ◽  
G. E. Maso ◽  
A. O. Kibitov
Keyword(s):  
Affective Disorders ◽  
Bipolar Affective Disorder ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Important Criterion ◽  
Genetic Studies ◽  
The Family ◽  
Polygenic Diseases ◽  
Potential Biomarkers

Affective disorders (recurrent depressive disorder and bipolar affective disorder) are multifactorial and polygenic diseases, which suggests the involvement of multiple neurobiological mechanisms. The phenotype of affective disorders is a heterogeneous group of clinically similar psychopathological symptoms, which also makes it difficult to detect potential biomarkers and new therapeutic targets. To study families at high risk of developing affective disorders using both clinical and molecular genetic approaches can help to study the neurobiological basis of depressive conditions, as well as to identify endophenotypes of affective disorders. The most important criterion for an endophenotype is its heritability, which can be proved only within the framework of the family design of the study. Comprehensive clinical and molecular genetic studies based on family design have the best prospects.

scholarly journals The Role Of rs1799883 Polymorphism Of The FABP2 Gene In The Pathogenesis Of Nosological Syntropy Of Gallstone Disease And Metabolic Syndrome

2021 ◽  
Vol 03 (06) ◽  
pp. 46-51
Author(s):  
Raximov Anvar Pulatboevich ◽  
◽  
Ismailov O’ktam Safaevich ◽  
Batirov Davronbek Yusupovich ◽  
◽  
...  
Keyword(s):  
Gallstone Disease ◽  
Molecular Genetic ◽  
Case Control ◽  
Control Model ◽  
Molecular Medicine ◽  
Genetic Studies ◽  
Homozygous Genotype ◽  
Risk Of Disease ◽  
Fabp2 Gene

Objective: to study the role of the rs1799883 polymorphism of the FABP2 gene in the pathogenesis of gallstone disease in combination with MS. Material and methods. Molecular genetic studies were carried out in the Department of Molecular Medicine and Cell Technologies of the RSNPMC Hematology. The analysis of the associations of the rs1799883 polymorphisms of the FABP2 gene was carried out using a case-control model. The main group consisted of 118 patients with cholelithiasis in combination with MS living in the Khorezm region. Results: As a result of our research, we identified a significant association of the homozygous genotype for the Thr allele with the development of gallstone disease in combination with MS. The indicator of the ratio of the chances of developing gallstone disease in combination with MS in carriers of this genotype was OR = 2.9 at 95% CI: 1.122- 7.424. The relative risk of disease was RR = 2.5 with 95% CI: 1.11-5.76. Conclusion: Our results allow us to conclude that the homozygous Thr/Thr genotype plays an important role in the formation of gallstone disease and obesity in people of Uzbek nationality.

scholarly journals The Role of Brain-Derived Neurotrophic Factor in Mediating the Action of Antidepressants in the Treatment of Depression

2019 ◽  
Vol 74 (1) ◽  
pp. 20-28 ◽  
Author(s):  
Tamara I. Vazagaeva ◽  
Roman V. Akhapkin ◽  
Yuri A. Alexandrovsky
Keyword(s):  
Neurotrophic Factor ◽  
Depressive Disorders ◽  
Therapeutic Response ◽  
Molecular Genetic ◽  
Genetic Studies ◽  
Trkb Receptor ◽  
Treatment Of Depression ◽  
Antidepressant Efficacy ◽  
Chronic Course

According to the neurotrophic hypothesis of depression proposed two decades ago, the most important role in the pathogenesis of depressive disorders is played by abnormalities in the maintenance of neuronal plasticity regulated by brain neurotrophic factor (BDNF). Although the decline in BDNF activity in depression is now widely documented, it remains unclear whether it is a factor contributing to the onset of depression, or a consequence of the chronic course of the disease. In preclinical studies, it was found that exogenous BDNF infusions causes antidepressant-like effects, prevents the depressogenic effects of chronic stress and increases cell survival in the hippocampus and the prefrontal cortex, but the mechanisms mediating these effects have not been fully studied. The results of molecular genetic studies confirmed that BDNF is essential in mediating the therapeutic effect of antidepressants, while the role of genetic polymorphisms in predicting antidepressant efficacy in depression remains uncertain. The mechanisms of action of monoaminergic antidepressants are related to their effect on the expression of BDNF and its TrkB receptor, however, apparently, the effect size varies for different drugs. Peripheral BDNF levels increase during treatment with antidepressants, and this increase is clearly observed only during the acute phase treatment of depression, but not during the period of maintenance therapy. The serum level of BDNF is a potentially useful marker for diagnosing depression and prediction of a therapeutic response.

scholarly journals The etiological role of the parainfluenza-3 virus in the respiratory pathology of young cattle

2020 ◽  
Vol 17 ◽  
pp. 00080
Author(s):  
Achouak Gueriche ◽  
Albert K. Galiullin ◽  
Vali G. Gumerov ◽  
Ilsiyar G. Karimullina ◽  
Aigul Y. Shaeva
Keyword(s):  
Respiratory Diseases ◽  
Viral Infections ◽  
Molecular Genetic ◽  
Genetic Studies ◽  
Biological Studies ◽  
Respiratory Pathology ◽  
Young Cattle ◽  
High Concentrations ◽  
Pathological Material

Parainfluenza virus-3 is the most common etiological agent in mixed respiratory diseases of calves with high concentrations of animals. The more severe course of the disease is observed with complications from bacterial or other viral infections. This article presents the results of clinical and epizootic, serological, virological and molecular genetic studies. A cytopathogenic agent was isolated from a pathological material taken from patients with respiratory diseases of calves in a BEK cell culture. Based on the results of serological and molecular biological studies, this isolate (“LD-9”) was identified as the parainfluenza-3 virus in cattle.

scholarly journals New insights into the role of the GABAA–benzodiazepine receptor in psychiatric disorder

2001 ◽  
Vol 179 (5) ◽  
pp. 390-396 ◽  
Author(s):  
David J. Nutt ◽  
Andrea L. Malizia
Keyword(s):  
Molecular Biology ◽  
Molecular Basis ◽  
Current Knowledge ◽  
Molecular Genetic ◽  
Benzodiazepine Receptor ◽  
Receptor Complex ◽  
Genetic Studies ◽  
Substantial Growth ◽  
Disease States

BackgroundIn the 40 years since the first benzodiazepine was brought into clinical use there has been a substantial growth in understanding the molecular basis of action of these drugs and the role of their receptors in disease states.AimsTo present current knowledge about the role of the GABAA–benzodiazepine receptor in anxiety disorders, new insights into the molecular biology of the receptor complex and neuroimaging studies suggesting involvement of these receptors in disease states.MethodAn overview of published literature, including some recent data.ResultsThe molecular biology of this receptor is detailed. Molecular genetic studies suggesting involvement of the GABAA–benzodiazepine receptor in animal behaviour and learning are outlined; possible parallels with human psychopathology are discussed.ConclusionsCurrent insights into the role of the GABAA–benzodiazepine receptor in the action of benzodiazepines and as a factor in disease states, in both animals and humans, may lead to new, more sophisticated interventions at this receptor complex and potentially significant therapeutic gains.

scholarly journals THE ROLE OF GATA3, FOXA1, ELF5 TRANSCRIPTION FACTORS IN THE PATHOGENESIS AND PROGNOSIS OF BREAST CANCER

2020 ◽  
Vol 19 (3) ◽  
pp. 146-155
Author(s):  
D. V. Vasilchenko ◽  
N. V. Krakhmal ◽  
S. V. Vtorushin ◽  
M. V. Zavyalova
Keyword(s):  
Breast Cancer ◽  
Transcription Factors ◽  
Hormone Therapy ◽  
Molecular Genetic ◽  
Morphological Characteristics ◽  
Therapy Resistance ◽  
Genetic Studies ◽  
Adequate Treatment ◽  
Subsequent Comparison

Purpose of the study: to review available data on the role and significance of GATA3, FOXA1 and ELF5 transcription factors in the pathogenesis, progression and therapy resistance of breast cancer.Material and Methods. The Medline and PubMed databases were used to identify all studies that evaluated the structure, functional parameters and participation of the studied transcription factors in the pathogenesis of breast cancer. More than 180 publications were analyzed, of which 76 were included into the review.Results. The review shows that molecular genetic studies in relation to transcription factors and subsequent comparison of the obtained results with various clinical and morphological characteristics of breast cancer are of great importance. The review also demonstrates the inconsistency of the available data regarding clinical significance in assessing the prognosis of the disease and the sensitivity of the tumor to hormone therapy.Conclusion. The study of the expression parameters of GATA3, FOXA1, and ELF5 transcription factors, as well as their relationship with tumor progression mechanisms will increase the reliability of immunomorphological studies, most likely suggesting the efficiency of hormone therapy. Therefore, the results of this study can help to plan adequate treatment tactics and predict outcomes in patients with breast cancer. 

scholarly journals CHRONIC UTERINE INFLAMMATION: SOME PATHOGENETIC ASPECTS

2017 ◽  
Vol 34 (6) ◽  
pp. 92-100
Author(s):  
E G Kobaidze
Keyword(s):  
Immune System ◽  
Molecular Genetic ◽  
Mutual Effect ◽  
Genetic Studies ◽  
Chronic Endometritis ◽  
Gene Dysregulation ◽  
Uterine Inflammation ◽  
Ambiguous Data

Currently, molecular-genetic studies attract attention of many scientists; there are contradictory and ambiguous data on some genes and their role in chronic inflammations of pelviс organs. Some immunogenetic aspects of pathogenesis of chronic endometritis are presented in this review; the role of mutual effect of gene dysregulation and immune system is indicated, the data on possible link between functional endometrium status and pathological polymorphism of some genes are cited.

scholarly journals Genetics in schizophrenia: where are we and what next?

2010 ◽  
Vol 12 (3) ◽  
pp. 289-303
Keyword(s):  
Copy Number ◽  
Association Studies ◽  
Molecular Genetic ◽  
Copy Number Variations ◽  
Future Research ◽  
Genome Wide Association Studies ◽  
Genetic Studies ◽  
Genome Wide ◽  
Number Variation

Understanding the genetic basis of schizophrenia continues to be major challenge. The research done during the last two decades has provided several candidate genes which unfortunately have not been consistently replicated across or within a population. The recent genome-wide association studies (GWAS) and copy number variation (CNV) studies have provided important evidence suggesting a role of both common and rare large CNVs in schizophrenia genesis. The burden of rare copy number variations appears to be increased in schizophrenia patients. A consistent observation among the GWAS studies is the association with schizophrenia of genetic markers in the major histocompatibility complex (6p22.1)-containing genes including NOTCH4 and histone protein loci. Molecular genetic studies are also demonstrating that there is more overlap between the susceptibility genes for schizophrenia and bipolar disorder than previously suspected. In this review we summarize the major findings of the past decade and suggest areas of future research.

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