Flavia Zattar Piazera*, Marcelo Mion, Guilherme Augusto Costa Damasio, Cynthia Ellen Toyoshima Greenfield, Rafael de Sá Vasconcelos, Jorge Vaz Pinto Neto and Selma Aparecida Kuckelhaus
DOI: 10.37421/1747-0862.2023.17.597
New A*33 allele has the closest match with HLA-A*33:03:01:01, except for a mismatch at position 270 in Exon 2. Instead of the expected T, an A was detected at this position. This information was included in the full Nomenclature report and contributed to the immunogenetic study.
DOI: 10.37421/1747-0862.2023.17.598
Over the past few decades, stem cell-based cardiac regeneration has emerged as a promising therapy for patients with heart failure, a condition that affects millions of people worldwide. Stem cells have the ability to differentiate into various types of cells, including heart cells, and can potentially be used to replace damaged or dead heart tissue. One of the challenges in using stem cells for cardiac regeneration is creating a suitable environment for their growth and differentiation. Traditional two-dimensional (2D) culture methods have limitations in mimicking the complex three-dimensional (3D) environment of the heart. This is where 3D organoid models come into play. Organoids are 3D structures that can be grown from stem cells, which can self-organize and differentiate into specific cell types, mimicking the structure and function of organs. In the context of cardiac regeneration, 3D organoids can be used to model heart tissue, providing a more accurate representation of the complex 3D architecture of the heart. Recent advances in 3D organoid models for stem cell-based cardiac regeneration have shown promising results. For example, researchers have been able to create 3D heart organoids from human induced pluripotent stem cells (iPSCs), which can be used for drug screening, disease modeling, and potentially for transplantation.
DOI: 10.37421/1747-0862.2023.17.599
DOI: 10.37421/1747-0862.2023.17.600
DOI: 10.37421/1747-0862.2023.17.601
Inflammatory bowel disease (IBD) is a chronic autoimmune disorder that affects the gastrointestinal tract. It includes two primary forms of inflammatory bowel disease - Crohn's disease (CD) and ulcerative colitis (UC) - that share some common clinical features such as abdominal pain, diarrhea, and rectal bleeding. Although the precise etiology of IBD remains unclear, it is believed that genetic, environmental, and immunological factors play a role in the development of this condition. Recent studies have suggested that epigenetic modifications in immune cells may contribute to the pathogenesis of IBD. This article will discuss the role of immunoepigenetic regulation in the development of IBD. Epigenetic modifications are heritable changes in gene expression that do not involve alterations to the DNA sequence. Epigenetic mechanisms include DNA methylation, histone modifications, and non-coding RNA expression, all of which play important roles in the regulation of gene expression. Dysregulation of epigenetic mechanisms can lead to aberrant gene expression and contribute to the development of diseases such as cancer, autoimmune disorders, and neurodegenerative diseases. In the context of IBD, recent studies have highlighted the importance of epigenetic modifications in immune cells.
DOI: 10.37421/1747-0862.2023.17.602
Intraductal papillary neoplasm of the pancreas (IPMN) is a frequently found, pancreatic cystic neoplasm. IPMN has relatively high malignant potential, and its therapeutic strategy is limited to surgical resection. It is well known that mutations of GNAS and KRAS play important roles in its malignant progression, but its molecular mechanisms have not been well elucidated. In this review, clinical features and molecular alterations of IPMN were summarized. Then, crosstalk between KRAS signaling and phosphatidylinositol 3-kinase (PI3K) signaling was clarified. Finally, it was indicated that the final effector of KRAS mutant IPMN could be carbon anhydrase IX (CA9), and the possibility of molecular targeted therapy against IPMN by means of CA9 inhibitors was discussed.
Dan Wang*, Jian Sun, Yiming Chen, Ting Zhu, Mianmian Zhu, Rongyue Sun, Yujing Gong and Yanying Zhu
DOI: 10.37421/1747-0862.2023.17.592
Ehiaghe Friday Alfred*, Ehiaghe Imuetinya Joy, Rebecca Chinyelu Chukwuanukwu, Onah Ejike Christian, Ihim Augustine Chinedu, Ochiabuto Mary-Theodora Ogochukwu, Unaeze Chukwuebuka Bright, Obi Chioma Maureen, Ukibe Rose Nkiruka, Osakue Omoyemen Nosahkare, Onyenekwe Charlse Chinedum, Meludu Chukwuemeka Samuel, Manafa Patrick Onochie and Emeje Paul Isaac
DOI: 10.37421/1747-0862.2023.17.592
Enterococci have gained significance as the cause of nosocomial infections. They occur as food contaminants and have also been linked to dental diseases. Currently, infective endocarditis (IE) caused by Enterococcus faecalis represents 10% of all IE and is marked by its difficult management and the frequency of relapses. Although the precise reasons for that remain to be elucidated, the evolution of the culprit strain based on single nucleotide polymorphism (SNP) could be, at least in part, involved. The cross sectional study randomly selected 40 consented (25 male and 15 female) HIV seropositive patients and body mass index of 16.7 ± 1.0 (Kg/m2 ) with CD4+ cells<200 cells/µl. Urine and feces samples were collected used for testing. Chrom agar was used for bacterial isolation. DNA isolations from the 24-hour growth cultures of possible Enterococcus faecalis were carried out using Zymo Research Bacterial DNA isolation kit. The twenty-nine (29) clinical isolates that showed black-colored colonies and were further subjected to polymerase chain reaction identification using Enterococcus faecalis gene specific primers. Only two (2) out of twenty-nine (29) suspected Enterococcus spp were PCR confirmed Enterococcus faecalis. We observed that about 85.36313% sites of the accessions are polymorphic among the two isolates. Considering the Enterococcus faecalis gene the polymorphic sites are 76.4% and 23.6% biallelic and triallelic respectively with a corresponding number of such sites as 447 and 331, respectively. The coding regions (CDs) for the Enterococcus faecalis genome displayed the majority of SNP loci at codon position C2 and C3 with 34.5% and 31.3% of their respective total SNP loci, respectively. The observed variability between the two sequences from Nigeria may be due to increased genetic diversity over time and could be a possible vaccine target in the prevention of infective endocarditis (IE) caused by Enterococcus faecalis.
DOI: 10.37421/1747-0862.2023.17.593
Primordial germ cells (PGCs) are the precursors of gametes in the developing embryo. These cells are specified early in embryonic development and have the ability to differentiate into sperm or ova depending on the sex of the individual. In birds, PGCs are formed in the early blastoderm stage, and migrate to the gonads where they differentiate into sperm or ova. The formation of PGCs in birds, particularly in chickens, has been extensively studied due to its importance in understanding avian reproduction and its potential applications in the field of reproductive biology. This essay will discuss the process of chicken PGC formation and the factors that influence this process. The early development of the chicken embryo begins with the fertilization of the ovum by the sperm. The zygote undergoes several cell divisions to form a hollow ball of cells called the blastoderm. At this stage, the embryo is still a single layer of cells, with a central area called the area pellucida and an outer area called the area opaca. The area pellucida is a clear region that is surrounded by the thicker, opaque area opaca. The blastoderm consists of two regions: the prospective embryo, which will give rise to the various organs and tissues of the body, and the extra-embryonic region, which will form the placenta and other supporting tissues.
DOI: 10.37421/1747-0862.2023.17.594
Idiopathic pulmonary fibrosis (IPF) is a chronic and progressive lung disease with unknown etiology that leads to the formation of scar tissue in the lungs. Although the molecular mechanisms underlying IPF remain unclear, epigenetic changes have been implicated in the disease pathogenesis. Epigenetics refers to modifications to DNA and histones that alter gene expression without changing the DNA sequence itself. These modifications include DNA methylation, histone modifications, and non-coding RNA expression, all of which are influenced by environmental factors. Epigenetic changes have been observed in IPF, particularly alterations in DNA methylation and histone modifications. Studies have identified DNA methylation changes in genes related to extracellular matrix remodeling, inflammation, and oxidative stress, which are all pathways that are dysregulated in IPF.In addition, histone modifications, such as histone acetylation and methylation, have been shown to regulate the expression of genes involved in fibrosis and inflammation. Given the potential role of epigenetic changes in IPF, precision medicine approaches targeting epigenetic modifications have been proposed as a potential therapeutic strategy. One approach is the use of drugs that target specific epigenetic enzymes, such as histone deacetylases (HDACs) and DNA methyltransferases (DNMTs), which are involved in histone and DNA modifications, respectively. For example, HDAC inhibitors have been shown to reduce fibrosis and improve lung function in animal models of IPF. However, the use of these drugs in human clinical trials has been limited due to their potential side effects and lack of specificity
DOI: 10.37421/1747-0862.2023.17.595
DOI: 10.37421/1747-0862.2023.17.596
DOI: 10.37421/1747-0862.2022.16.587
Familial hypercholesterolemia (FH) is an inherited condition that causes high levels of low-density lipoprotein cholesterol (LDL-C) in the blood. The condition is caused by mutations in genes responsible for regulating the metabolism of cholesterol in the liver. FH affects approximately 1 in 200 people worldwide, and is associated with a higher risk of premature cardiovascular disease (CVD), such as heart attacks and strokes. Heart transplantation is a life-saving procedure for patients with severe heart disease, but it is not without its risks. In particular, heart transplant recipients are at an increased risk for CVD, including accelerated atherosclerosis, which can lead to transplant failure and death. FH is a significant risk factor for accelerated atherosclerosis in heart transplant recipients, and managing cholesterol levels in these patients is critical to their long-term outcomes.
DOI: 10.37421/1747-0862.2022.16.588
Regenerative medicine is an interdisciplinary field of medicine that involves the repair, replacement or regeneration of tissues, organs or cells in the human body. It is a rapidly growing field that holds great promise for the treatment of a wide range of medical conditions, including chronic diseases and injuries that were previously considered untreatable. In this article, we will explore the basics of regenerative medicine, its current state, and the future possibilities it holds. Regenerative medicine involves the use of advanced technology to stimulate the body's natural healing process. It is based on the principle that the human body has an innate ability to heal itself, and that this healing process can be harnessed to treat a wide range of diseases and injuries. The field of regenerative medicine encompasses a wide range of approaches, including cell therapy, tissue engineering, gene therapy, and biomaterials. Cell therapy involves the use of stem cells to repair or replace damaged tissue, while tissue engineering involves the creation of new tissue from living cells. Gene therapy involves the use of genes to treat or prevent disease, and biomaterials involve the use of synthetic or natural materials to support tissue growth.
DOI: 10.37421/1747-0862.2022.16.589
DOI: 10.37421/1747-0862.2022.16.590
In the field of medicine, the goal of personalized medicine is to provide tailored treatment plans to individual patients based on their unique biological characteristics. This approach is becoming increasingly important as it enables physicians to optimize patient outcomes while minimizing the risk of adverse effects. One critical tool in personalized medicine is molecular imaging, which enables the visualization of specific biological processes at the molecular level. In this essay, we will explore the role of molecular imaging in personalized medicine. Molecular imaging is now widely used in the treatment of many diseases, with a particular emphasis on cancer care. It refers to the in vivo identification and quantification of key biomolecules and molecular events that underpin malignant conditions. This article discusses both established and emerging molecular imaging methods in oncology. Current molecular imaging techniques have benefits for both clinical cancer care and drug development.
DOI: 10.37421/1747-0862.2022.16.591
Al-Bu Ali Majed Jawad*, Al-Shaikali Mariam S, Al-Motawa Mossa N, Al-Ibraheem Adulazeem A, Al salameen Fatima A, Al-hajji Fatima M and Alagnam Amnah A
DOI: 10.37421/1747-0862.2023.17.614
Background: Galactosemia is a rare metabolic genetic disorder due to a deficiency of Galactose -1-Phosphate Uridyltransferase (GALT). The disorder usually affects many systems with acute as well as long-term consequences. Galactosemia is inherited as an autosomal recessive pattern. More than one hundred mutations have been identified, some associated with the severe clinical picture and others with benign or maybe asymptomatic. Here we presented a clinically normal infant with abnormal newborn screening and positive mutation most likely causing Duarte type of galactosemia. The prognosis of classical Galactosemia is poor with high morbidity and mortality rate while it is benign with Duarte type of galactosemia, which is related to complete or partial enzyme deficiency.
Material and methods: We report a female infant of Saudi origin product of consanguineous marriage (double consanguinity) With abnormal low (GALT) in repeated newborn screening tests through Dried Blood Spot (DBS) which is consistence with a genetics variant discovered by Whole Exome Sequence (WES).
Result: The constellation of clinical presentation and biochemical findings confirmed by Molecular genetics investigations showed a rare homozygous variant c.940A>G p.(Asn314Asp) in the GALT gene (OMIM:606999) which is consistence with Duarte galactosemia.
Wei-Hsuan Chuang*, Hsueh-Chien Cheng, Pao-Yin Fu, Yi-Chen Huang, Ping-Heng Hsieh, Shu-Hwa Chen, Pui-Yan Kwok, Chung-Yen Lin, Jan-Ming Ho and Yu-Jung Chang
DOI: 10.37421/1747-0862.2023.17.613
In this paper, we introduce a novel genome assembly optimization tool named LOCLA. It identifies reads aligned locally with high quality on gap flanks or scaffold boundaries, and assembles them into contigs for gap filling or scaffold connection. LOCLA enhances the quality of an assembly based on reads of diverse sequencing techniques, either 10x Genomics (10xG) Linked-Reads, PacBio HiFi reads or both. For example, with 10xG Linked-Reads, the long-range information provided by barcodes allows LOCLA to recruit additional reads belonging to the same gDNA molecule, resulting in accurate gap filling and increased sequence coverage.
In our experiments, we started by creating a preliminary draft assembly for each dataset using assembly tools such as Supernova and Canu assembler based on the type of sequencing reads. The preliminary draft assembly could either be a de novo assembly or a reference-based assembly. Then, we performed LOCLA on the assembly generally in the order of gap filling and then scaffolding. We validated LOCLA on four datasets, including three human samples and one non-model organism. For the first human sample (LLD0021C) and the non-model organism (B. sexangula), draft assemblies were generated with Supernova assembler using only 10xG Linked-Reads. We showed that LOCLA improved the draft assembly of LLD0021C by adding 23.3 million bases, which covered 28,746 protein coding regions, particularly in pericentromeric and telomeric regions. As for B. sexangula, LOCLA enhanced the assembly published by Pootakham W, et al. and by decreasing 41.4% of its gaps.
For the second human sample, the HG002 (NA24385) cell line, we mainly utilized PacBio HiFi reads. In contrast to the first human sample, we experimented on reference-based assemblies instead of de novo assemblies. We employed the RagTag reference-guided scaffolding tool to generate two draft assemblies and then filled gaps with LOCLA. The results indicated that LOCLA's candidate contig detection algorithm on gap flanks was robust, as it was able to recover a number of contigs that RagTag had not utilized, which were 27.9 million bases (22.26%) and 35.7 million bases (30.93%) for the two assemblies respectively. To evaluate the accuracy of the LOCLA-filled assemblies, we aligned them to the maternal haploid assembly of HG002 published by the Human Pan-genome Reference Consortium. We demonstrated that 95% of all sequences filled in by LOCLA have over 80% of similarity to the reference.
The third human dataset included 10x G Linked-Reads and PacBio HiFi reads of the CHM13 cell line. By utilizing reads of both sequencing techniques through gap filling and scaffolding modules of LOCLA, we added 46.2 million bases to the Supernova assembly. The additional content enabled us to identify genes linked to complex diseases (e.g., ARHGAP11A) and critical biological pathways.
DOI: 10.37421/1747-0862.2023.17.615
DOI: 10.37421/1747-0862.2023.17.616
DOI: 10.37421/1747-0862.2023.17.617
DOI: 10.37421/1747-0862.2023.17.618
DOI: 10.37421/1747-0862.2023.17.619
Complex diseases, characterized by multifactorial inheritance patterns, are influenced by a combination of genetic and environmental factors. Genetic modifiers, secondary genetic variations that interact with primary disease-causing mutations, play a pivotal role in shaping the clinical manifestations and outcomes of complex diseases. This research article explores the concept of genetic modifiers, their mechanisms of action, and their implications in disease pathogenesis and treatment strategies. We delve into case studies across diverse disease domains, including cystic fibrosis, cardiovascular disorders, and neurodegenerative diseases, to elucidate how genetic modifiers contribute to phenotypic variability, disease severity, and response to therapeutic interventions. Additionally, we discuss emerging research methodologies, such as genome-wide association studies and functional genomics, that are advancing our understanding of genetic modifiers. Through comprehensive exploration, this article underscores the potential of genetic modifiers as therapeutic targets and diagnostic tools for personalized medicine, emphasizing the need for interdisciplinary collaborations and continued research in unraveling the intricate genetics of complex diseases.
DOI: 10.37421/1747-0862.2023.17.620
DOI: 10.37421/1747-0862.2023.17.621
DOI: 10.37421/1747-0862.2023.17.622
Epigenetic modifications, crucial regulators of gene expression and cellular identity, have emerged as promising targets in molecular medicine for the treatment of diverse diseases. This research article explores the intricate world of epigenetic modifiers, elucidating their roles in shaping gene expression patterns and cellular functions. We delve into the mechanisms by which DNA methylation, histone modifications, and noncoding RNAs orchestrate epigenetic regulation. Through a comprehensive analysis, we highlight the dynamic role of epigenetic modifications in disease pathogenesis and progression, spanning cancer, neurodegenerative disorders, and cardiovascular diseases. The article underscores the potential of epigenetic modifiers as therapeutic interventions, discussing emerging strategies such as epigenome editing and targeted therapies. By examining clinical case studies and ongoing trials, we illustrate how harnessing epigenetic modifications can revolutionize disease treatment. Ethical considerations and challenges in epigenetic therapy are also addressed, emphasizing the importance of responsible innovation. In conclusion, this research article provides a comprehensive exploration of the transformative impact of epigenetic modifiers in advancing molecular medicine and paving the way for precision therapeutics.
DOI: 10.37421/1747-0862.2023.17.612
Early detection and screening of cancer can lead to far more favorable outcomes through early treatment and preventative measures. The field of Multi-Cancer Early Detection (MCED) is predicated on the capability to detect a signal of cancer from one blood-draw. This is clearly a transformational breakthrough but it is still early days and more work is needed. Certainly, there seem to be very positive early signs on the sensitivity, specificity and concordance of the testing. Moving forward, there would appear to be a clear economic case to be made for paying for one single test as opposed to multiple tests and who should be testing, when to test and how often. For cancers where there are currently no screening strategies in place—MCED testing is primed to be fine-tuned and developed further to offer preventive medicine for those high-risk populations.
DOI: 10.37421/1747-0862.2023.17.603
DOI: 10.37421/1747-0862.2023.17.604
DOI: 10.37421/1747-0862.2023.17.605
Epigenomics is an emerging field of research that focuses on understanding the complex network of chemical modifications that influence gene expression. It delves into the study of epigenetic mechanisms, which are dynamic and reversible modifications to the DNA and its associated proteins, without altering the underlying genetic code. By exploring epigenetic patterns, researchers can unravel how genes are turned on or off and how they interact with the environment. This article will delve into the fascinating world of epigenomics, its significance in human health and disease, technological advancements and its potential applications. Epigenomics aims to investigate the epigenetic modifications that govern gene expression. It encompasses a broad range of processes, including DNA methylation, histone modifications and chromatin remodelling and non-coding RNA molecules. These mechanisms play crucial roles in development, aging and the response of cells to external stimuli. DNA methylation is a prevalent epigenetic modification, involving the addition of a methyl group to the DNA molecule. Methylation typically occurs at cytosine residues within a CpG dinucleotide context and it often leads to gene silencing. Histone modifications, on the other hand, involve chemical changes to the proteins that support DNA, known as histones. These modifications can either activate or repress gene expression, depending on the specific modification.
DOI: 10.37421/1747-0862.2023.17.606
The field of molecular genetic testing has revolutionized healthcare and our understanding of human genetics. This cutting-edge technology enables scientists and healthcare professionals to delve deep into the building blocks of life itself - our DNA. By unlocking the secrets held within our genes, molecular genetic testing has opened up a new world of possibilities for diagnosing, treating and preventing genetic disorders. In this article, we will explore the fundamentals of molecular genetic testing, its applications in medicine and the implications it holds for the future of personalized healthcare. At its core, molecular genetic testing involves analyzing specific genes, chromosomes, or proteins to identify variations, mutations, or abnormalities that may contribute to genetic disorders. This type of testing allows scientists and healthcare professionals to examine an individual's genetic material at the molecular level. The most common method employed in molecular genetic testing is Polymerase Chain Reaction (PCR), which amplifies specific DNA segments for analysis. Other techniques include Next-Generation Sequencing (NGS) and microarray analysis.
DOI: 10.37421/1747-0862.2023.17.607
In the realm of cancer research, few genes have garnered as much attention and significance as KRAS. KRAS mutations are among the most common genetic alterations found in human cancers, particularly in pancreatic, colorectal and lung cancers. The discovery of these mutations has revolutionized our understanding of cancer biology and opened new avenues for targeted therapies. In this article, we will delve into the world of KRAS mutations, exploring their impact on cancer development and discussing the recent advancements in therapeutic approaches. KRAS, an acronym for Kirsten rat sarcoma viral oncogene homolog, is a proto-oncogene that plays a vital role in cell signalling pathways. This gene encodes a protein involved in transmitting signals from cell surface receptors to the cell nucleus, thereby regulating critical cellular functions such as proliferation, differentiation and apoptosis. However, when mutated, KRAS becomes an oncogene, driving uncontrolled cell growth and promoting tumour formation. KRAS mutations are known to confer aggressive tumour behavior and resistance to conventional cancer therapies. Studies have shown that KRAS-mutated tumors tend to be more resistant to chemotherapy and radiation, posing significant challenges in the clinical management of these cancers. Additionally, KRAS mutations are associated with poor prognosis and reduced overall survival rates in several cancer types, underscoring the urgent need for effective targeted therapies.
DOI: 10.37421/1747-0862.2023.17.608
DOI: 10.37421/1747-0862.2023.17.609
DOI: 10.37421/1747-0862.2023.17.610
DOI: 10.37421/1747-0862.2023.17.611
Molecular and Genetic Medicine received 3919 citations as per Google Scholar report
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