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Review of Genetic Variants of Butyrylcholinesterase and Their Potential Impact on Human Health 丁基胆碱酯酶基因变异及其对人体健康的潜在影响
Pub Date : 2021-08-13 DOI: 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.
丁基胆碱酯酶(BChE)是一种存在于血浆和身体许多其他部位的酶。这种酶水解含有酯键的药物,如作用于神经肌肉接点的药物(琥珀胆碱)和局部麻醉剂(普鲁卡因)。对引起所观察到的生化表型的基因突变或多态性的检查已经分离出那些导致所有最广为人知的变异的基因。目前已报道了BChE的非典型变异、抗氟变异、沉默变异、K变异、J变异和C5变异等遗传变异的分子基础。一般来说,BChE多态性已被证明产生具有不同水平催化活性的酶。人类丁基胆碱酯酶的遗传变异是药物遗传学新领域的第一个例子,当时人们认识到对琥珀胆碱的异常反应是由于一种低结合亲和力的酶突变引起的。除此之外,BChE变异对阿尔茨海默病的病理有潜在的影响。
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引用次数: 0
Ethics in Gene Editing 基因编辑中的伦理
Pub Date : 2021-08-13 DOI: 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.
几千年来,人类一直觉得有必要了解他们周围的世界,并最终操纵它以最好地满足他们的需求。总是有伦理问题需要解决,特别是当操纵涉及人类基因组时。目前迫切需要积极地进行这些对话,因为商业基因测序和编辑技术已经变得更容易获得和负担得起。基因编辑作为一种研究工具和治疗干预手段都具有巨大的潜力。虽然其他类型的基因编辑相对没有争议,但基因编辑一直受到强烈抵制。
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引用次数: 0
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Open Access Indonesian Journal of Medical Reviews
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