{"title":"探索周围神经病变的分子遗传学和基因编辑方法:未来的治疗方法","authors":"Fatima Muzamil , Muhammad Waseem Sajjad","doi":"10.1016/j.genrep.2025.102285","DOIUrl":null,"url":null,"abstract":"<div><div>Peripheral neuropathies are conditions in which the nerves of the peripheral nervous system (PNS) become disrupted. A tingling sensation and apathy are frequent symptoms. These symptoms could be unpleasant and are usually followed by fatigue. The hallmarks of acquired peripheral neuropathy (APN) include metabolic issues, inflammatory reactions, and impairments in axonal communication. Presently, it is known that errors in genetic material that encode proteins with a wide variety of activities result in different forms of Charcot-Marie-Tooth diseases (CMT) and associated hereditary peripheral neuropathies. Among these are cytoskeletal proteins, adhesion molecules, gap-junction proteins, transcription factors, receptors for neurotropic factors, structural proteins related to forming compact myelin, proteins involved in signalling pathways, and proteins involved in concealing the cell division process. The prospects of developing effective medications for neuropathic pain depend on the potential to comprehend pain mechanisms. Molecular methods for treating neuropathic pain include RNAi and gene-based therapies. New methods of gene therapy for the management of Inherited peripheral neuropathic conditions have been made possible by the latest innovations in genetic modification technologies. Driven by both inherited and acquired causes, the increasing frequency of peripheral neuropathies calls for creative and exact molecular therapies. This study is particularly relevant as direct manipulation of neuropathy-related mutations made possible by modern gene editing technologies like CRISPR-Cas9 and prime editing now helps Development of next-generation treatments depends on an awareness of these techniques.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"40 ","pages":"Article 102285"},"PeriodicalIF":0.9000,"publicationDate":"2025-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Exploring molecular genetics and gene editing approaches of peripheral neuropathies: A future treatment approach\",\"authors\":\"Fatima Muzamil , Muhammad Waseem Sajjad\",\"doi\":\"10.1016/j.genrep.2025.102285\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>Peripheral neuropathies are conditions in which the nerves of the peripheral nervous system (PNS) become disrupted. A tingling sensation and apathy are frequent symptoms. These symptoms could be unpleasant and are usually followed by fatigue. The hallmarks of acquired peripheral neuropathy (APN) include metabolic issues, inflammatory reactions, and impairments in axonal communication. Presently, it is known that errors in genetic material that encode proteins with a wide variety of activities result in different forms of Charcot-Marie-Tooth diseases (CMT) and associated hereditary peripheral neuropathies. Among these are cytoskeletal proteins, adhesion molecules, gap-junction proteins, transcription factors, receptors for neurotropic factors, structural proteins related to forming compact myelin, proteins involved in signalling pathways, and proteins involved in concealing the cell division process. The prospects of developing effective medications for neuropathic pain depend on the potential to comprehend pain mechanisms. Molecular methods for treating neuropathic pain include RNAi and gene-based therapies. New methods of gene therapy for the management of Inherited peripheral neuropathic conditions have been made possible by the latest innovations in genetic modification technologies. Driven by both inherited and acquired causes, the increasing frequency of peripheral neuropathies calls for creative and exact molecular therapies. This study is particularly relevant as direct manipulation of neuropathy-related mutations made possible by modern gene editing technologies like CRISPR-Cas9 and prime editing now helps Development of next-generation treatments depends on an awareness of these techniques.</div></div>\",\"PeriodicalId\":12673,\"journal\":{\"name\":\"Gene Reports\",\"volume\":\"40 \",\"pages\":\"Article 102285\"},\"PeriodicalIF\":0.9000,\"publicationDate\":\"2025-07-06\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Gene Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S245201442500158X\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Gene Reports","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S245201442500158X","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
Exploring molecular genetics and gene editing approaches of peripheral neuropathies: A future treatment approach
Peripheral neuropathies are conditions in which the nerves of the peripheral nervous system (PNS) become disrupted. A tingling sensation and apathy are frequent symptoms. These symptoms could be unpleasant and are usually followed by fatigue. The hallmarks of acquired peripheral neuropathy (APN) include metabolic issues, inflammatory reactions, and impairments in axonal communication. Presently, it is known that errors in genetic material that encode proteins with a wide variety of activities result in different forms of Charcot-Marie-Tooth diseases (CMT) and associated hereditary peripheral neuropathies. Among these are cytoskeletal proteins, adhesion molecules, gap-junction proteins, transcription factors, receptors for neurotropic factors, structural proteins related to forming compact myelin, proteins involved in signalling pathways, and proteins involved in concealing the cell division process. The prospects of developing effective medications for neuropathic pain depend on the potential to comprehend pain mechanisms. Molecular methods for treating neuropathic pain include RNAi and gene-based therapies. New methods of gene therapy for the management of Inherited peripheral neuropathic conditions have been made possible by the latest innovations in genetic modification technologies. Driven by both inherited and acquired causes, the increasing frequency of peripheral neuropathies calls for creative and exact molecular therapies. This study is particularly relevant as direct manipulation of neuropathy-related mutations made possible by modern gene editing technologies like CRISPR-Cas9 and prime editing now helps Development of next-generation treatments depends on an awareness of these techniques.
Gene ReportsBiochemistry, Genetics and Molecular Biology-Genetics
CiteScore
3.30
自引率
7.70%
发文量
246
审稿时长
49 days
期刊介绍:
Gene Reports publishes papers that focus on the regulation, expression, function and evolution of genes in all biological contexts, including all prokaryotic and eukaryotic organisms, as well as viruses. Gene Reports strives to be a very diverse journal and topics in all fields will be considered for publication. Although not limited to the following, some general topics include: DNA Organization, Replication & Evolution -Focus on genomic DNA (chromosomal organization, comparative genomics, DNA replication, DNA repair, mobile DNA, mitochondrial DNA, chloroplast DNA). Expression & Function - Focus on functional RNAs (microRNAs, tRNAs, rRNAs, mRNA splicing, alternative polyadenylation) Regulation - Focus on processes that mediate gene-read out (epigenetics, chromatin, histone code, transcription, translation, protein degradation). Cell Signaling - Focus on mechanisms that control information flow into the nucleus to control gene expression (kinase and phosphatase pathways controlled by extra-cellular ligands, Wnt, Notch, TGFbeta/BMPs, FGFs, IGFs etc.) Profiling of gene expression and genetic variation - Focus on high throughput approaches (e.g., DeepSeq, ChIP-Seq, Affymetrix microarrays, proteomics) that define gene regulatory circuitry, molecular pathways and protein/protein networks. Genetics - Focus on development in model organisms (e.g., mouse, frog, fruit fly, worm), human genetic variation, population genetics, as well as agricultural and veterinary genetics. Molecular Pathology & Regenerative Medicine - Focus on the deregulation of molecular processes in human diseases and mechanisms supporting regeneration of tissues through pluripotent or multipotent stem cells.