AIMS Molecular Science最新文献_第4页

Genetic variation in alcoholism and opioid addiction susceptibility and treatment: a pharmacogenomic approach 酒精中毒和阿片类药物成瘾易感性和治疗的遗传变异:药物基因组学方法

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AIMS Molecular Science Pub Date : 2021-01-01 DOI: 10.3934/molsci.2021016

Catherine Demery-Poulos, Joseph M Chambers

{"title":"Genetic variation in alcoholism and opioid addiction susceptibility and treatment: a pharmacogenomic approach","authors":"Catherine Demery-Poulos, Joseph M Chambers","doi":"10.3934/molsci.2021016","DOIUrl":"https://doi.org/10.3934/molsci.2021016","url":null,"abstract":"Alcohol and opioid abuse have pervasive and detrimental consequences from the individual to societal level. The extent of genetic contribution to alcoholism has been studied for decades, yielding speculative and often inconsistent results since the previous discovery of two pharmacokinetic variants strongly protective against alcoholism. The neurobiology of addiction involves innumerate genes with combinatorial and epistatic interactions, creating a difficult landscape for concrete conclusions. In contrast, pharmacogenomic variation in the treatment of alcoholism yields more immediate clinical utility, while also emphasizing pathways crucial to the progression of addiction. An improved understanding of genetic predisposition to alcohol abuse has inherent significance for opioid addiction and treatment, as the two drugs induce the same reward pathway. This review outlines current knowledge, treatments, and research regarding genetic predisposition to alcoholism, focusing on pharmacodynamic variation within the dopaminergic system and shared implications for opioid abuse. Multifaceted and highly polygenic, the phenotype of addiction seems to grow more complex as new research extends the scope of its impact on the brain, body, and progeny.","PeriodicalId":44217,"journal":{"name":"AIMS Molecular Science","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70226064","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Identification of dysregulated pathways through SLC30A8 protein interaction in type 1 diabetes mellitus 通过SLC30A8蛋白相互作用鉴定1型糖尿病的失调途径

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AIMS Molecular Science Pub Date : 2021-01-01 DOI: 10.3934/molsci.2021023

Afreen Bhatty, Z. Rubab, Hafiz Syed Mohammad Osama Jafri, Sheh Zano

{"title":"Identification of dysregulated pathways through SLC30A8 protein interaction in type 1 diabetes mellitus","authors":"Afreen Bhatty, Z. Rubab, Hafiz Syed Mohammad Osama Jafri, Sheh Zano","doi":"10.3934/molsci.2021023","DOIUrl":"https://doi.org/10.3934/molsci.2021023","url":null,"abstract":"<abstract><sec> <title>Objective</title> The aim of the current study was to explore the gene enrichment and dysregulated pathways on the basis of interaction network analysis of <italic>SLC30A8</italic> in type 1 diabetes mellitus (T1DM). <italic>SLC30A8</italic> polymorphism could be characterized as a beneficial tool to identify the interacting gene in developing T1DM. </sec><sec> <title>Materials and methods</title> <italic>SLC30A8</italic> interacting protein interaction network was obtained by String Interaction network Version 11.0. Ten proteins were identified interacting with <italic>SLC30A8</italic> and were analysed by protein-protein interaction and enrichment network analysis along with Functional Enrichment analysis tool (FunRich 3.1.3) to map the gene data sets. In entire analysis, FunRich database was used as background against all annotated gene/protein list. Protein-protein interaction (PPI) and enrichment network analysis of the selected protein: <italic>SLC30A8</italic> gene along with gene mapping and pathway enrichment were performed using FunRich 3.1.3 and String Interaction network Version 11.0. </sec><sec> <title>Results</title> Biological pathway grouping displayed enriched proteins in TRAIL signalling pathway (<italic>p</italic> < 0.001). <italic>PTPRN, GAD2</italic> and <italic>TCF7L2</italic> were enriched in TRAIL Signalling pathway when <italic>INS</italic> was made focused gene and directly interacting with <italic>SLC30A8</italic>. </sec><sec> <title>Conclusions</title> TRAIL signalling pathways were enriched in T1DM. Therefore, <italic>SLC30A8</italic> along with <italic>PTPRN, GAD2</italic> and <italic>TCF7L2</italic> involved in TRAIL pathway must be further explored to understand their in vivo role in T1DM. </sec></abstract>","PeriodicalId":44217,"journal":{"name":"AIMS Molecular Science","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70226416","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Cartilage type IIB procollagen NH2-propeptide, PIIBNP, inhibits angiogenesis 软骨IIB型前胶原nh2前肽，PIIBNP，抑制血管生成

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AIMS Molecular Science Pub Date : 2021-01-01 DOI: 10.3934/molsci.2021022

Zhepeng Wang, Aiwu Lu

引用次数: 0

Role of OX40 and its ligand as costimulatory modulators in cancer immunotherapy OX40及其配体作为共刺激调节剂在肿瘤免疫治疗中的作用

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AIMS Molecular Science Pub Date : 2021-01-01 DOI: 10.3934/molsci.2021012

Aliya Irshad Sani, Zil-e-Rubab, S. Usman, Syed Zaryab Ahmed, M. Hosein

{"title":"Role of OX40 and its ligand as costimulatory modulators in cancer immunotherapy","authors":"Aliya Irshad Sani, Zil-e-Rubab, S. Usman, Syed Zaryab Ahmed, M. Hosein","doi":"10.3934/molsci.2021012","DOIUrl":"https://doi.org/10.3934/molsci.2021012","url":null,"abstract":"Body‟s defence mechanism has ability to combat tumour cells but tumour cells can circumvent immune system in order to flourish. Therefore, current research focuses on reinvigorating immune system to combat against extensive range of human malignancies through immunotherapy. Recently, immuno-therapy has demonstrated beneficial outcomes in cancers treatment but the main drawbacks are primary and acquired resistance to the therapeutic agents and immune-related toxicities. Therefore, novel immune therapies are direly required. Co-stimulatory molecules such as TNF Receptor Superfamily Member 4 (OX40, CD134) and its ligand TNF Superfamily Member 4 (CD252, OX40L) are expressed on different immune cells. The mutual interaction between OX40 and its ligand (OX40/OX40L) decreases the functional capacity of immunosuppression offered by regulatory T cells (Tregs) and induces the proliferation of T cells against specific antigen enhancing the immune response. Many clinical trials are focusing on OX40/OX40L therapeutic agents to find out whether they have therapeutic effect on cancer treatment. The initial phase trials result of OX40 and its ligands focusing therapeutic agents are encouraging but still not sufficient. This review will concentrate on the cellular and molecular pathways of OX40-mediated T-cell co-stimulation, the expression of OX40 and OX40L in tumours, the implications of their interactions and their under-or over-expression patterns, with particular focus on the function of OX40 in tumours of different origins. Finally, we discuss results of clinical trials of OX40 and OX40L directed pharmacotherapy and the lacunae that need to be filled.","PeriodicalId":44217,"journal":{"name":"AIMS Molecular Science","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70225751","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Viral load and interaction of HPV oncoprotein E6 and E7 with host cellular markers in the progression of cervical cancer HPV癌蛋白E6和E7与宿主细胞标志物在宫颈癌进展中的病毒载量和相互作用

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AIMS Molecular Science Pub Date : 2021-01-01 DOI: 10.3934/molsci.2021014

B. Mir, P. F. Rahaman, Arif Ahmad

{"title":"Viral load and interaction of HPV oncoprotein E6 and E7 with host cellular markers in the progression of cervical cancer","authors":"B. Mir, P. F. Rahaman, Arif Ahmad","doi":"10.3934/molsci.2021014","DOIUrl":"https://doi.org/10.3934/molsci.2021014","url":null,"abstract":"Cervical cancer is the sequel of a multi-factorial, long-term unresolved disease that includes genetic, epigenetic, and viral components responsible for its development and progression. It is the second most common cancer of females in India. Human papillomavirus (HPV) is considered the primary causative agent of pre-neoplastic and cancerous lesions and 90% of all cervical carcinomas are linked to high-risk HPV type 16 and type 18. Although most HR-HPV infections are asymptomatic, transient, and self-limiting, the persistent infection with a high risk (HR-HPV) may cause precancerous lesions that can progress to cervical cancer. HPV type 16 is the most common HPV in India associated with more than 75% of cervical cancer, followed by HPV type 18 and other high-risk types. Infection with HPV alone is not sufficient for the development of cervical cancer but there is the involvement of some host genetic factors also that are responsible for the development and progression of cervical cancer. This article briefly reviews molecular pathogenesis, viral load, and the interaction of HPV oncoprotein E6 and E7 with host cellular markers in the progression of cervical cancer.","PeriodicalId":44217,"journal":{"name":"AIMS Molecular Science","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70225903","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Recent developments and future perspectives in aging and macrophage immunometabolism 衰老与巨噬细胞免疫代谢的研究进展及展望

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AIMS Molecular Science Pub Date : 2021-01-01 DOI: 10.3934/molsci.2021015

B. Pence

引用次数: 1

COVID-19 associated cardiac disease: Is there a role of neutrophil extracellular traps in pathogenesis? 与COVID-19相关的心脏病:中性粒细胞胞外陷阱在发病机制中是否起作用?

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AIMS Molecular Science Pub Date : 2021-01-01 DOI: 10.3934/molsci.2021021

Amal Farouk, Areez Shafqat, Shameel Shafqat, J. Kashir, K. Alkattan, A. Yaqinuddin

{"title":"COVID-19 associated cardiac disease: Is there a role of neutrophil extracellular traps in pathogenesis?","authors":"Amal Farouk, Areez Shafqat, Shameel Shafqat, J. Kashir, K. Alkattan, A. Yaqinuddin","doi":"10.3934/molsci.2021021","DOIUrl":"https://doi.org/10.3934/molsci.2021021","url":null,"abstract":"The COVID-19 pandemic has driven an upheaval of new research, providing key insights into the pathogenesis of this disease. Lymphocytopenia, hyper-inflammation and cardiac involvement are prominent features of the disease and have prognostic value. However, the mechanistic links among these phenomena are not well understood. Likewise, some COVID-19 patients exhibit multi-organ failure with diseases affecting the cardiac system, appearing to be an emerging feature of the COVID-19 pandemic. Neutrophil extracellular traps (NETs) have been frequently correlated with larger infarct sizes and can predict major adverse cardiac events. However, the exact mechanism behind this remains unknown. Although the excessive NET formation can drive inflammation, particularly endothelial and promote thrombosis, it is essential to normal immunity. In this paper, we postulate the role of NETs in cardiac disease by providing an overview of the relationship between NET and inflammasome activities in lung and liver diseases, speculating a link between these entities in cardiac diseases as well. Future research is required to specify the role of NETs in COVID-19, since this carries potential therapeutic significance, as inhibition of NETosis could alleviate symptoms of this disease. Knowledge gained from this could serve to inform the assessment and therapeutics of other hyper inflammatory diseases affecting the heart and vasculature alike.","PeriodicalId":44217,"journal":{"name":"AIMS Molecular Science","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70225860","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2

The phenotypic spectrum in a patient with Glycine to Serine mutation in the COL2A1 gene: overview study COL2A1基因甘氨酸到丝氨酸突变患者的表型谱:综述研究

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AIMS Molecular Science Pub Date : 2021-01-01 DOI: 10.3934/MOLSCI.2021006

M. Shboul, H. Sassi, H. Jilani, I. Rejeb, Y. Elaribi, S. Hizem, L. B. Jemaa, Marwa Hilmi, S. Kircher, A. Kaissi, Kurgan Russia Ortopedics n.a. G.A. Ilizarov

{"title":"The phenotypic spectrum in a patient with Glycine to Serine mutation in the COL2A1 gene: overview study","authors":"M. Shboul, H. Sassi, H. Jilani, I. Rejeb, Y. Elaribi, S. Hizem, L. B. Jemaa, Marwa Hilmi, S. Kircher, A. Kaissi, Kurgan Russia Ortopedics n.a. G.A. Ilizarov","doi":"10.3934/MOLSCI.2021006","DOIUrl":"https://doi.org/10.3934/MOLSCI.2021006","url":null,"abstract":"Objective: Osteochondrodysplasias are a heterogeneous group of genetic skeletal dysplasias. Mutations in the COL2A1 gene cause a spectrum of rare autosomal-dominant type II collagenopathies characterized by skeletal dysplasia, short stature, and with vision and auditory defects. In this study, we have investigated in more detail the phenotypic and genotypic characterization resulting from glycine to serine mutations in the COL2A1 gene in a 2-year-old boy. Materials and methods: Detailed clinical and radiological phenotypic characterization was the baseline tool to guide the geneticists toward proper genotypic confirmation. Results: Genetic analysis revealed a de novo mutation, c.1681G>A (p.Gly561Ser), in the collagen type II alpha-1 gene (COL2A1). The identified variant showed impaired protein stability, and lead to dysfunction of type II collagen. In addition to pre and postnatal growth retardation, remarkable retardation of gross motor development and intellectual disability were noted. The latter was connected to cerebral malformations. The overall clinical phenotype of our current patient resembles spondyloepiphyseal dysplasia congenita (SEDC), but with extra phenotypic criteria. Conclusions: The aim of this paper is twofold; firstly, raising awareness among orthopaedic surgeons when dealing with children","PeriodicalId":44217,"journal":{"name":"AIMS Molecular Science","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70225877","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Insights on neuroendocrine regulation of immune mediators in female reproductive aging and cancer 免疫介质在女性生殖衰老和癌症中的神经内分泌调节研究进展

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AIMS Molecular Science Pub Date : 2021-01-01 DOI: 10.3934/molsci.2021010

H. P. Priyanka, R. S. Nair, Sanjana Kumaraguru, K. Saravanaraj, Vasantharekha Ramasamy

{"title":"Insights on neuroendocrine regulation of immune mediators in female reproductive aging and cancer","authors":"H. P. Priyanka, R. S. Nair, Sanjana Kumaraguru, K. Saravanaraj, Vasantharekha Ramasamy","doi":"10.3934/molsci.2021010","DOIUrl":"https://doi.org/10.3934/molsci.2021010","url":null,"abstract":"Neuroendocrine-immune homeostasis in health and disease is a tightly regulated bidirectional network that influences predisposition, onset and progression of age-associated disorders. The complexity of interactions among the nervous, endocrine and immune systems necessitates a complete review of all the likely mechanisms by which each individual system can alter neuroendocrine-immune homeostasis and influence the outcome in age and disease. Dysfunctions in this network with age or external/internal stimuli are implicated in the development of several disorders including autoimmunity and cancer. The existence of sympathetic noradrenergic innervations on lymphoid organs in synaptic association with immune cells that express receptors for endocrine mediators such as hormones, neural mediators such as neurotransmitters and immune effector molecules such as cytokines explains the complicated nature of the regulatory pathways that must always maintain homeostatic equilibrium within and among the nervous, endocrine and immune systems. The incidence, development and progression of cancer, affects each of the three systems by disrupting regulatory pathways and tipping the scales away from homeostasis to favour pathways that enable it to evade, override and thrive by using the network to its advantage. In this review, we have explained how the neuroendocrine-immune network is altered in female reproductive aging and cancer, and how these modulations contribute to incidence and progression of cancer and hence prove to be valuable targets from a therapeutic standpoint. Reproductive aging, stress-associated central pathways, sympathetic immunomodulation in the periphery, inflammatory and immunomodulatory changes in central, peripheral and tumor-microenvironment, and neuro-neoplastic associations are all likely candidates that influence the onset, incidence and progression of cancer.","PeriodicalId":44217,"journal":{"name":"AIMS Molecular Science","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70225952","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A truncation mutation in the L1CAM gene in a child with hydrocephalus 脑积水儿童L1CAM基因的截断突变

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AIMS Molecular Science Pub Date : 2021-01-01 DOI: 10.3934/molsci.2021017

M. Srinivasamurthy, Nagaraj Kakanahalli, Shreeshail V. Benakanal

引用次数: 0