Y. Ekta, Yadav Niket, Vanta Katherine, Yadav Jagjit S
This article explores the use of exosomes in skin care and their potential for modifying epigenetic changes in fibroblasts and other immune regulatory cells of the skin. Exosomes are nanosized extracellular vesicles that play a vital role in intercellular communication by transporting various biomolecules such as proteins, lipids, and nucleic acids between cells. They are released by skin cells and contain various molecules that are essential for skin health, such as growth factors, cytokines, and extracellular matrix proteins. Recent studies have shown that exosomes can modify epigenetic changes in skin cells, particularly histones, and they have the potential to be used as a therapeutic agent in various skin disorders. This article discusses the use of exosomes in skin care and their potential for modulating epigenetic changes in skin cells in response to environmental factors, with a focus on histone modifications.
{"title":"Exosome-driven epigenetic modulation of histone proteins: Pioneering anti-oncogenic and skin health applications","authors":"Y. Ekta, Yadav Niket, Vanta Katherine, Yadav Jagjit S","doi":"10.17352/sjggt.000022","DOIUrl":"https://doi.org/10.17352/sjggt.000022","url":null,"abstract":"This article explores the use of exosomes in skin care and their potential for modifying epigenetic changes in fibroblasts and other immune regulatory cells of the skin. Exosomes are nanosized extracellular vesicles that play a vital role in intercellular communication by transporting various biomolecules such as proteins, lipids, and nucleic acids between cells. They are released by skin cells and contain various molecules that are essential for skin health, such as growth factors, cytokines, and extracellular matrix proteins. Recent studies have shown that exosomes can modify epigenetic changes in skin cells, particularly histones, and they have the potential to be used as a therapeutic agent in various skin disorders. This article discusses the use of exosomes in skin care and their potential for modulating epigenetic changes in skin cells in response to environmental factors, with a focus on histone modifications.","PeriodicalId":197606,"journal":{"name":"Scientific Journal of Genetics and Gene Therapy","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132670989","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}
Chromosome 22 is the second smallest human chromosome, covering more than 51 million base pairs and comprising between 1.5 and 2 percent of the total DNA in cells. Microdeletion of chromosome 22q11.2 underlies the most commonly diagnosed human deletion syndrome and is associated with over 180 clinical features. The condition is highly underdiagnosed in developing countries and diverse population groups. A variety of laboratory techniques have been used over the years to detect the 22q11.2 microdeletion resulting in the discovery that more than one gene on chromosome 22 is involved. Many patients with the syndrome now survive into adulthood. The clinical and genetic manifestation of this syndrome is present in all medical disciplines with care for both adults and children being relatively intricate. This review describes the clinical features and findings, some of the molecular genetics, and the various laboratory techniques that have evolved over the years in the diagnosing of the 22q11.2 deletion syndrome.
{"title":"A Review of 22q11.2 microdeletion syndrome: Clinical and diagnostic Perspective","authors":"Sooknanan Rachna, Baine Fiona K, Ayuk Sandra","doi":"10.17352/sjggt.000021","DOIUrl":"https://doi.org/10.17352/sjggt.000021","url":null,"abstract":"Chromosome 22 is the second smallest human chromosome, covering more than 51 million base pairs and comprising between 1.5 and 2 percent of the total DNA in cells. Microdeletion of chromosome 22q11.2 underlies the most commonly diagnosed human deletion syndrome and is associated with over 180 clinical features. The condition is highly underdiagnosed in developing countries and diverse population groups. A variety of laboratory techniques have been used over the years to detect the 22q11.2 microdeletion resulting in the discovery that more than one gene on chromosome 22 is involved. Many patients with the syndrome now survive into adulthood. The clinical and genetic manifestation of this syndrome is present in all medical disciplines with care for both adults and children being relatively intricate. This review describes the clinical features and findings, some of the molecular genetics, and the various laboratory techniques that have evolved over the years in the diagnosing of the 22q11.2 deletion syndrome.","PeriodicalId":197606,"journal":{"name":"Scientific Journal of Genetics and Gene Therapy","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132754754","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}
Background: New coronavirus disease is considered one of the most widely spreading viral infections all over the world. Increased numbers of severe COVID-19 cases are growing up. Severe cases require ICU mechanical ventilation and hence anesthesia requirement. Aim: Reviewing of different genetic polymorphisms which might affect patient clinical response, safety and tolerability to different types of anesthesia used in severe COVID-19 patients requiring mechanical ventilation. Main body of the abstract: Severity of COVID-19 infection resulted from cytokine storm that leads to Acute Respiratory Distress Syndrome (ARDS) contribute in ICUs mechanical ventilation and anesthesia. Genetic polymorphisms showed to contribute in wide variation in anesthetic responses. Different polymorphic genes of RYR1, CACNA1S, MTHFR, OPRM1, ABCB1, CYP2B6 and others, play a main role in such variations. Different types of anesthesia as sevoflurane, midazolam, suxamethonium, nitrous oxide, fentanyl, and propofol showed altered pharmacokinetics and/or dynamics leading to a lack of anesthetic effect and incidence of life-threatening adverse effects as malignant hyperthermia, myocardial infarction, dyspnea, and others. Short conclusion: Genetic screening is a serious step to take into consideration to identify genetic polymorphic types that may alter the anesthetic effect in ICUs ventilation. Besides, it will avoid possible adverse effects and different sedation response variations. Sevoflurane, Fentanyl, and propofol can be taken into consideration as a safe choice for use in ICUs taking into consideration genetic polymorphic variants.
{"title":"Potential effects of genetic polymorphism on anesthesia use for COVID-19 infected patients at intensive care unit","authors":"A. Sara, Raslan Mohamed, M. Eslam, Sabri Nagwa A","doi":"10.17352/sjggt.000020","DOIUrl":"https://doi.org/10.17352/sjggt.000020","url":null,"abstract":"Background: New coronavirus disease is considered one of the most widely spreading viral infections all over the world. Increased numbers of severe COVID-19 cases are growing up. Severe cases require ICU mechanical ventilation and hence anesthesia requirement. Aim: Reviewing of different genetic polymorphisms which might affect patient clinical response, safety and tolerability to different types of anesthesia used in severe COVID-19 patients requiring mechanical ventilation. Main body of the abstract: Severity of COVID-19 infection resulted from cytokine storm that leads to Acute Respiratory Distress Syndrome (ARDS) contribute in ICUs mechanical ventilation and anesthesia. Genetic polymorphisms showed to contribute in wide variation in anesthetic responses. Different polymorphic genes of RYR1, CACNA1S, MTHFR, OPRM1, ABCB1, CYP2B6 and others, play a main role in such variations. Different types of anesthesia as sevoflurane, midazolam, suxamethonium, nitrous oxide, fentanyl, and propofol showed altered pharmacokinetics and/or dynamics leading to a lack of anesthetic effect and incidence of life-threatening adverse effects as malignant hyperthermia, myocardial infarction, dyspnea, and others. Short conclusion: Genetic screening is a serious step to take into consideration to identify genetic polymorphic types that may alter the anesthetic effect in ICUs ventilation. Besides, it will avoid possible adverse effects and different sedation response variations. Sevoflurane, Fentanyl, and propofol can be taken into consideration as a safe choice for use in ICUs taking into consideration genetic polymorphic variants.","PeriodicalId":197606,"journal":{"name":"Scientific Journal of Genetics and Gene Therapy","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123873184","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}
Vitis vinifera ‘Guifeimeigui’ is a diploid table grape, a Eurasian species. This research first reported the complete chloroplast (cp) genome of Vitis vinifera ‘Guifeimeigui’. The size of the complete cp genome is 160,928 bp and its GC content is 37.38%, including a pair of inverted repeats (26,353 bp each) separated by large (89,150 bp) and small (19,072 bp) single-copy regions. It encodes 85 genes, including 40 protein coding genes, 37 transfer RNA genes (tRNA), and 8 ribosomal RNA genes (rRNA). The Maximum Likelihood (ML) phylogenetic tree demonstrated that Vitis vinifera ‘Guifeimeigui’ is close to Vitis vinifera.
{"title":"Characterization of the complete chloroplast genome sequence of Vitis vinifera ‘Guifeimeigui’","authors":"Liu Li, Yang Yang, Liang Xiujie, Li Bo","doi":"10.17352/sjggt.000019","DOIUrl":"https://doi.org/10.17352/sjggt.000019","url":null,"abstract":"Vitis vinifera ‘Guifeimeigui’ is a diploid table grape, a Eurasian species. This research first reported the complete chloroplast (cp) genome of Vitis vinifera ‘Guifeimeigui’. The size of the complete cp genome is 160,928 bp and its GC content is 37.38%, including a pair of inverted repeats (26,353 bp each) separated by large (89,150 bp) and small (19,072 bp) single-copy regions. It encodes 85 genes, including 40 protein coding genes, 37 transfer RNA genes (tRNA), and 8 ribosomal RNA genes (rRNA). The Maximum Likelihood (ML) phylogenetic tree demonstrated that Vitis vinifera ‘Guifeimeigui’ is close to Vitis vinifera.","PeriodicalId":197606,"journal":{"name":"Scientific Journal of Genetics and Gene Therapy","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134347760","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}
CA Quintero Vasquez, I. Gonzalez, ML Quevedo Camera, AM García Ordonez, LG Celis Regalado
Introduction: The tuberous sclerosis complex is a multisystemic disease of autosomal dominant etiology, not pretty common in Latin America. It is caused by the mutation of the TSC1 and TSC2 genes which is characterized by uncontrolled production of Hamartomas in diverse organs and systems. However, some patients could present asymptomatic characteristics whereas other could experience fatal symptoms.
{"title":"Detection of new mutations in 3 cases de novo tuberous sclerosis","authors":"CA Quintero Vasquez, I. Gonzalez, ML Quevedo Camera, AM García Ordonez, LG Celis Regalado","doi":"10.17352/SJGGT.000017","DOIUrl":"https://doi.org/10.17352/SJGGT.000017","url":null,"abstract":"Introduction: The tuberous sclerosis complex is a multisystemic disease of autosomal dominant etiology, not pretty common in Latin America. It is caused by the mutation of the TSC1 and TSC2 genes which is characterized by uncontrolled production of Hamartomas in diverse organs and systems. However, some patients could present asymptomatic characteristics whereas other could experience fatal symptoms.","PeriodicalId":197606,"journal":{"name":"Scientific Journal of Genetics and Gene Therapy","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116725659","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}
Gastrointestinal stromal tumors (GISTs) are rare sporadic tumors that typically occur late in life, although they are the most common mesenchymal neoplasms of the gastrointestinal tract. GISTs are believed to originate from the Interstitial Cells of Cajal (ICC), a group of cells identified in the wall of the organs of the gastrointestinal tract, which act as a pace-maker for peristalsis and gut movements. However, familial and pediatric cases have also been reported.
{"title":"Heredo-Familial and Pediatric GISTs: Spot the Differences","authors":"A. Perez, D. Fanale","doi":"10.17352/SJGGT.000007","DOIUrl":"https://doi.org/10.17352/SJGGT.000007","url":null,"abstract":"Gastrointestinal stromal tumors (GISTs) are rare sporadic tumors that typically occur late in life, \u0000although they are the most common mesenchymal neoplasms of the gastrointestinal tract. GISTs are \u0000believed to originate from the Interstitial Cells of Cajal (ICC), a group of cells identified in the wall of \u0000the organs of the gastrointestinal tract, which act as a pace-maker for peristalsis and gut movements. \u0000However, familial and pediatric cases have also been reported.","PeriodicalId":197606,"journal":{"name":"Scientific Journal of Genetics and Gene Therapy","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"1900-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"117226338","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}
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