Columbia Undergraduate Science Journal最新文献

{"title":"Molecular Mechanisms and Clinical Features of Huntington Disease: A Fatal Neurodegenerative Disorder with Autosomal Dominant Inheritance","authors":"Neelabh Datta","doi":"10.52214/cusj.v17i1.10288","DOIUrl":"https://doi.org/10.52214/cusj.v17i1.10288","url":null,"abstract":"Huntington disease (HD) is a fatal genetic disorder that affects the movement and cognition of affected individuals. It is inherited in an autosomal dominant manner, meaning that each child of a parent with HD has a 50% chance of inheriting the mutated gene. The mutation involves an expansion of a trinucleotide repeat (CAG) in the HD gene, which is located on the short arm of chromosome 4p16.3. The HD gene encodes a protein called huntingtin, which has an unknown function. The number of CAG repeats determines the severity and onset of the disease. Normal individuals have 26 or fewer repeats, while HD patients have 40 or more repeats. Individuals with 27 to 35 repeats do not develop HD, but they can pass on the mutation to their offspring, especially if the mutation is inherited from the father. Individuals with 36 to 39 repeats may or may not develop HD, depending on other factors. The more CAG repeats, the earlier the symptoms appear. HD is the most extensively studied neurodegenerative disorder with a genetic cause. There are genetic tests available to diagnose HD and to predict the risk of developing HD in asymptomatic individuals. There are also prenatal and preimplantation tests to prevent the transmission of HD to the next generation. HD is characterized by involuntary movements called chorea, which affect all muscles and impair all psychomotor functions. HD patients also suffer from cognitive decline and psychiatric symptoms, such as mood disorders and social changes. These symptoms are chronic and progressive, leading to complete dependence and death. Chorea can also be caused by other conditions, such as metabolic disorders or drug-induced side effects. Neuroimaging techniques, such as MR imaging, fluorodeoxyglucose positron emission tomography (FDG-PET), MR spectroscopy, and diffusion tensor imaging, can help to diagnose HD and monitor its progression. The pathophysiology of HD involves the loss of neurons and the dysfunction of neurotransmitter systems, especially the dopaminergic system. There is no cure for HD, but there are treatments to manage the symptoms and to improve the quality of life of HD patients. These include pharmacological interventions, such as dopamine receptor antagonists or depleters, and non-pharmacological interventions, such as psychological and social support. HD is a devastating disease that poses many challenges for patients, families, and healthcare providers. There is hope that gene-targeted therapies will be developed in the near future to stop or slow down the disease process.","PeriodicalId":339464,"journal":{"name":"Columbia Undergraduate Science Journal","volume":"29 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139443320","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}

{"title":"Inside the Nucleon: Tomographic Interpretations and Universality of GPDs with DDVCS","authors":"Melinda Yuan, Jocelyn Robbins","doi":"10.52214/cusj.v17i1.10616","DOIUrl":"https://doi.org/10.52214/cusj.v17i1.10616","url":null,"abstract":"The goal of Double Deeply Virtual Compton Scattering (DDVCS) experiments is to better understand the internal structure of the nucleon. Previous attempts to resolve the internal structure of nucleons have resulted in electromagnetic form factors and parton distribution functions for elastic scattering and deep inelastic scattering processes, respectively. Generalized Parton Distributions (GPDs) are the latest attempt to unify these models of nucleon structure. The GPDs of DDVCS give us ability to investigate off of the diagonal where x ̸= ±ξ. The main goal of our analysis is to determine the best experimental setup in order to deduce the kinematic variables on which GPDs depend from the lab observables. The effectiveness of our data collection in the laboratory is by determined the physical kinematics, Q2, Q′2,t, xi,ϕLM, ϕCMV , and θCMV . We can then run DDVCS experiments and collect data on observables to improve upon the current models for GPDs of the nucleon.","PeriodicalId":339464,"journal":{"name":"Columbia Undergraduate Science Journal","volume":"25 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139443091","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}

{"title":"Expression of Single mRNA Constructs Encoding Both CRISPR-Cas9 Protein and Guide RNAs for Future Gene Therapy Applications","authors":"Elvis Lang, John Tilton, Thomas Sweet","doi":"10.52214/cusj.v17i1.10965","DOIUrl":"https://doi.org/10.52214/cusj.v17i1.10965","url":null,"abstract":"The basis of many life-threatening diseases is disruption in key genes. In many cases, repairing these disruptions can prevent or reverse disease. The development of CRISPR-Cas9 technology, which consists of Cas9 nuclease directed to specific genomic locations by guide RNA (gRNA), has significantly progressed in the past decade and has shown signs of promise for treating diseases such as Alzheimer’s and cystic fibrosis. One integral issue of gene editing therapy is the method and effectiveness of delivery. Current approaches such as lentiviral and adeno-associated virus vectors suffer from either stable, constant expression of CRISPR components that causes unintended gene editing or an inability to efficiently carry large cargoes such as two independent genes: Cas9 and guide RNA. To begin to bypass these cargo limitations, we created a CRISPR-Cas9 mRNA structure that encompasses all of the necessary components for gene editing on a single RNA. These constructs consist of a promoter, followed by a Cas9 open reading frame, a triplex region from MALAT1 that protects the Cas9 open reading frame, and then either 1, 2, or 4 gRNAs that target specific reporters, with each gRNA between two self-cleaving ribozyme sequences. These constructs successfully drove Cas9 editing of two distinct reporters in human cells and thus open the door for many more experiments such as incorporation into various delivery constructs to further develop this technology for gene editing therapy. ","PeriodicalId":339464,"journal":{"name":"Columbia Undergraduate Science Journal","volume":"21 7","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139443766","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}

{"title":"Effect of Eccentricity in Microwave Imaging of Multiple Composite Pipes","authors":"Yuki Gao, Noshin Raisa, R. Amineh","doi":"10.52214/CUSJ.V15I.7805","DOIUrl":"https://doi.org/10.52214/CUSJ.V15I.7805","url":null,"abstract":"The use of non-metallic composites that are durable, low cost, and lightweight is growing fast in various industries. A commonly used form of these materials is in the shape of pipes that can be used, for instance, in oil and gas industry. Such pipes can be damaged due to material loss (defects and holes), erosions, and more which may cause major production failures or environmental mishaps. To prevent these issues, non-destructive testing (NDT) methods need to be employed for regular inspections of such components. Since traditional NDT methods are mainly used for metallic pipes, recently microwave imaging has been proposed as a promising approach for examination of non-metallic pipes. While microwave imaging can be employed for inspection of multiple layers of pipes, the effect of undesired eccentricity of the pipes can impose additional imaging errors. In this paper, for the first time, we study the effect of eccentricity of the pipes on the images reconstructed using near-field holographic microwave imaging when imaging double pipes.","PeriodicalId":339464,"journal":{"name":"Columbia Undergraduate Science Journal","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126496999","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}

{"title":"Microbiome Composition and Circadian Rhythm Disruption Alters Epithelial Barrier Integrity","authors":"Elisha Y. Pinker, Timur Tuganbaev","doi":"10.52214/CUSJ.V15I1.7408","DOIUrl":"https://doi.org/10.52214/CUSJ.V15I1.7408","url":null,"abstract":"The intestine is home to one of the most complex ecological communities, termed the human gut microbiome. The gut microbiome modulates a wide range of human diseases from diabetes to neurological disorders to cancer. Separating the host and the gut microbiome is the epithelial barrier. The intestinal epithelium serves as an adaptive interaction hub between the host and microbiome that plays an important role in deciding the outcome of host-microbiome interactions. Regulation of epithelial barrier permeability to ions, nutrients and microbiome metabolites is known to be a tightly controlled process on the host side. However, whether the microbiome community also affects epithelial permeability remains unclear. Here, we show that alterations in microbiota composition by treatment with antibiotics selectively targeting specific members of the microbiome community impacts the permeability of the intestine. Additionally, modulating the microbiome through other methods such as altering diet composition shows changes in permeability of the epithelial barrier. As daily feeding rhythm entrains diurnal fluctuations in microbiome, we have set out to measure epithelial barrier permeability throw out the clock. We have discovered that the permeability of the intestinal epithelial barrier exhibits circadian rhythms in mice. Disruption of these rhythms, through jet-lag or genetic deficiencies in circadian machinery, consequently alters epithelial barrier integrity. Together, these findings provide evidence that disruptions in circadian rhythms as well as alterations in microbiome composition have direct consequences in intestinal permeability, and that microbiome might serve as a tool in regulating epithelium permeability.","PeriodicalId":339464,"journal":{"name":"Columbia Undergraduate Science Journal","volume":"12 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128623373","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}

{"title":"Identification of LncRNAs as Therapeutic Targets in Chronic Lymphocytic Leukemia","authors":"Simay Dolaner, Harpreet Kaur, Elia Brodsky, J. Panov, Mohit Mazumder","doi":"10.52214/CUSJ.V15I1.7787","DOIUrl":"https://doi.org/10.52214/CUSJ.V15I1.7787","url":null,"abstract":"Chronic Lymphocytic Leukemia (CLL) is one kind of blood cancer that has a very heterogeneous biological background, which results in diverse stages of the CLL and complex treatment strategies. However, a small part of the tumor may disappear without receiving any treatment. This condition is known as “spontaneous regression” and occurs as a result of a poorly investigated mechanism. Exposing the underlying causes of this condition can lead to a novel treatment approach for CLL and other types of cancer. While most such mechanisms have been assumed to be directly linked to protein coding genes, a recent approach was aimed to carry out more comprehensive studies by focusing on non-protein coding genes as well as protein-coding genes at the RNA level. In this article, we applied in-silico analysis of total RNA expression data from 24 CLL samples to determine possible regulatory mechanisms of spontaneous regression in CLL. These were selected by comparing spontaneous regression with progressive samples of CLL at the transcriptional level. As a result, 33 lncRNAs were found to be significantly differentially expressed among these conditions based on differential gene expression analysis. Current study suggested lncRNAs, PTPN22-AS1, PCF11-AS1, SYNGAP1-AS1, PRRT3-AS1 and H1FX-AS1 as potential therapeutic targets to trigger spontaneous regression. Eventually, the results presented here reveal new insights into the spontaneous regression and the relation with the non-coding RNAs, particularly lncRNAs.","PeriodicalId":339464,"journal":{"name":"Columbia Undergraduate Science Journal","volume":"9 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128962821","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}

{"title":"Effects of APOBEC3G's Cytidine Deaminase Activity on Retroviral Evolution","authors":"Mary-Benedicta Obikili","doi":"10.52214/CUSJ.V15I1.7788","DOIUrl":"https://doi.org/10.52214/CUSJ.V15I1.7788","url":null,"abstract":"Apolipoprotein B editing complex (APOBEC3/A3) genes are found in mammalian cells. In primates, there are 7 APOBEC3 genes, namely, 3A, 3B, 3C, 3DE, 3F, 3G, and 3H. Previous research has shown that A3 proteins help to inhibit viral infection via their cytidine deaminase activity. However, it has also been found that A3 proteins could also lead to viral evolution, where viruses such as HIV (Human Immunodeficiency Virus) instead gain beneficial mutations that enable them to overcome the antiviral activity of A3 proteins, gain resistance to certain drugs used for treating viral infections and escape recognition by the immune system. This paper is a review article summarizing the role of A3G on viral infection and evolution, and the potential impact viral evolution could have in treatment of retroviral infections such as HIV.","PeriodicalId":339464,"journal":{"name":"Columbia Undergraduate Science Journal","volume":"31 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129953400","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}

{"title":"CUSJ Volume 14 - 2020","authors":"Editorial Board Cusj","doi":"10.52214/cusj.v14i.6414","DOIUrl":"https://doi.org/10.52214/cusj.v14i.6414","url":null,"abstract":"CUSJ, Volume 14 - 2020 Edition","PeriodicalId":339464,"journal":{"name":"Columbia Undergraduate Science Journal","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131489255","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}

{"title":"Current Methods and Future Research in the Diagnosis of Alzheimer’s Disease","authors":"G. Jhajj, M. Fariñas","doi":"10.52214/CUSJ.V13I.6362","DOIUrl":"https://doi.org/10.52214/CUSJ.V13I.6362","url":null,"abstract":"The ability to detect the presence of many neurodegenerative diseases during the early stages has been done with limited success. This article will briefly explore biochemical characteristics of Alzheimer’s Disease (AD), and current methods for detecting AD. These methods will be evaluated against how accurate and invasive these tests are as well as the time required to conduct one of these tests. As well the innovations made for detecting other neurodegenerative diseases and how these methods could be applied for detecting AD in the early stages. How a diagnostic test based off discussed detection principles will also be detailed in addition to the theoretical creation of a fluorescent assay that could be used as a detection method for AD.","PeriodicalId":339464,"journal":{"name":"Columbia Undergraduate Science Journal","volume":"21 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124681597","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}

{"title":"Lipophilic Tracer DiI Used for Neuronal Tracing in the Fixed Hippocampal Formations of Mice","authors":"J. Greenberg, R. Piskorowski, S. Siegelbaum","doi":"10.52214/CUSJ.V5I.6370","DOIUrl":"https://doi.org/10.52214/CUSJ.V5I.6370","url":null,"abstract":"Both the hippocampus and the entorhinal cortex are involved in memory formation. It is thought that they work together to create a loop that is involved in the formation of long term memories. The entorhinal cortex sends projections to the CA1 field of the hippocampus and the CA1 field sends projections back to the entorhinal cortex. How exactly they communicate is unknown. In order to do electrophysiological studies it is necessary to know in which orientation to cut the brain to preserve the most connections between these two areas. Here we show that DiI crystal application can be used to successfully label known fiber paths from the dentate gyrus to the CA3 field. Then we begin with sagittal and horizontal slices of the brain to see how well connections between the CA1 field and the EC are preserved.","PeriodicalId":339464,"journal":{"name":"Columbia Undergraduate Science Journal","volume":"4 2","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2020-01-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"120861850","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}