Pub Date : 2021-08-13DOI: 10.37275/oaijmr.v1i6.575
Bharmatisna Anggaharsya Nugraha
Butyrylcholinesterase (BChE) is an enzyme found in plasma and many other parts of the body. It is enzyme that hydrolyses drugs containing ester bonds such as drugs acting at the neuromuscular junction (succinylcholine) and local anaesthetics (procaine). Examination of the gene for mutations or polymorphisms causing the observed biochemical phenotypes has isolated those responsible for all the most widely known variants. The molecular bases of several genetic variants of BChE have been reported, such as the Atypical variant, fluoride-resistant variant, silent variant, K variant, J variant and C5 variant. In general, BChE polymorphisms have been shown to produce enzymes with varying levels of catalytic activity. Genetic variants of human butyrylcholinesterase were one of the first examples in the new field of pharmacogenetics when it was recognized that abnormal response to the succinylcholine was due to a mutated enzyme with low binding affinity. Beside that, variant of BChE has potential impact for Alzheimer disease patology.
{"title":"Review of Genetic Variants of Butyrylcholinesterase and Their Potential Impact on Human Health","authors":"Bharmatisna Anggaharsya Nugraha","doi":"10.37275/oaijmr.v1i6.575","DOIUrl":"https://doi.org/10.37275/oaijmr.v1i6.575","url":null,"abstract":"Butyrylcholinesterase (BChE) is an enzyme found in plasma and many other parts of the body. It is enzyme that hydrolyses drugs containing ester bonds such as drugs acting at the neuromuscular junction (succinylcholine) and local anaesthetics (procaine). Examination of the gene for mutations or polymorphisms causing the observed biochemical phenotypes has isolated those responsible for all the most widely known variants. The molecular bases of several genetic variants of BChE have been reported, such as the Atypical variant, fluoride-resistant variant, silent variant, K variant, J variant and C5 variant. In general, BChE polymorphisms have been shown to produce enzymes with varying levels of catalytic activity. Genetic variants of human butyrylcholinesterase were one of the first examples in the new field of pharmacogenetics when it was recognized that abnormal response to the succinylcholine was due to a mutated enzyme with low binding affinity. Beside that, variant of BChE has potential impact for Alzheimer disease patology.","PeriodicalId":106715,"journal":{"name":"Open Access Indonesian Journal of Medical Reviews","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130804671","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}
Pub Date : 2021-08-13DOI: 10.37275/oaijmr.v1i6.576
I. M. Diana
For thousands of years, humans have felt the need to understand the world around them—and ultimately manipulate it to best serve their needs. There are always ethical questions to address, especially when the manipulation involves the human genome. There is currently an urgent need to actively pursue those conversations as com- mercial gene sequencing and editing technologies have become more accessible and affordable. Gene Editing has enormous potential both as a research tool and a therapeutic intervention. While other types of gene editing are relatively uncontroversial, gene editing has been strongly resisted.
{"title":"Ethics in Gene Editing","authors":"I. M. Diana","doi":"10.37275/oaijmr.v1i6.576","DOIUrl":"https://doi.org/10.37275/oaijmr.v1i6.576","url":null,"abstract":"For thousands of years, humans have felt the need to understand the world around them—and ultimately manipulate it to best serve their needs. There are always ethical questions to address, especially when the manipulation involves the human genome. There is currently an urgent need to actively pursue those conversations as com- mercial gene sequencing and editing technologies have become more accessible and affordable. Gene Editing has enormous potential both as a research tool and a therapeutic intervention. While other types of gene editing are relatively uncontroversial, gene editing has been strongly resisted.","PeriodicalId":106715,"journal":{"name":"Open Access Indonesian Journal of Medical Reviews","volume":"56 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2021-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"117127512","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}