网站首页期刊介绍通知公告编 委 会投稿须知电子期刊广告合作联系我们
最新消息:
单基因神经遗传病的研究进展
作者:朱明明1  王博晔1  蔡祥胜2  杨翌1  孙筱放1  谢英俊1 
单位:1. 妇产科/广州医科大学附属第三医院妇产科实验部科研平台/广东省产科重大疾病重点实验室/广东省妇产疾病临床医学研究中心/粤港澳母胎医学高校联合实验室/广州医科大学附属第三医院, 广东 广州 510150;
2. 广州市第十一人民医院/广州市干部健康管理中心 检验科, 广东 广州
关键词:单基因神经遗传病 研究热点 治疗 综述 
分类号:R751.5
出版年·卷·期(页码):2023·51·第十一期(1650-1654)
摘要:

单基因神经遗传病(MNDs)影响着全球数以亿计的人,给个人、照顾者和医疗系统带来了巨大的负担。这些疾病主要是由遗传性或新生变异引起的,导致神经系统发育障碍、神经变性或神经元功能受损,目前没有治愈的方法,许多疾病对药物治疗是无效的。随着科学技术的发展,对于单基因神经遗传病的研究也在不断发展。本文就MNDs的现有研究热点、研究瓶颈以及新技术如何克服神经遗传性疾病复杂性及它们自身的挑战作一综述。

参考文献:

[1] BURNS W,CHAUDHARI B P,HAFFNER D N.Neurogenetic and metabolic mimics of common neonatal neurological disorders[J].Semin Pediatr Neurol,2022,42:100972-100982.
[2] SIEGERT S,MINDLER G T,BRVCKE C,et al,Expanding the phenotype of the FAM149B1-Related ciliopathy and identification of three neurogenetic disorders in a single family[J].Genes(Basel),2021,12(11):1648-1663.
[3] HELLEBREKERS D M J,VAN ABEELEN S A M,CATSMAN C E,et al.Cognitive and behavioral functioning in two neurogenetic disorders;how different are these aspects in Duchenne muscular dystrophy and Neurofibromatosis type 1[J]? PLoS One,2022,17(10):0275803-0275826.
[4] HICKMAN R A,O'SHEA S A,MEHLER M F,et al,Neurogenetic disorders across the lifespan:from aberrant development to degeneration[J].Nat Rev Neurol,2022,18(2):117-124.
[5] GOOD J M,ATALLAH I,CASTRO JIMENEZ M,et al.NGS-based diagnosis of treatable neurogenetic disorders in adults:opportunities and challenges[J].Genes(Basel),2021,12(5):695-702.
[6] SEIDLITZ J,NADIG A,LIU S,et al.Transcriptomic and cellular decoding of regional brain vulnerability to neurogenetic disorders[J].Nat Commun,2020,11(1):3358-3372.
[7] VAN EEGHEN A M,BRUINING H,WOLF N I,et al.Personalizedmedicine for rare neurogenetic disorders:can we make it happen[J]?Cold Spring Harb Mol Case Stud,2022,8(2):a006200-a006214.
[8] BENSON M D,WADDINGTON-CRUZ M,BERK J L,et al.Inotersen treatment for patients with hereditary transthyretin amyloidosis[J].N Engl J Med,2018,379(1):22-31.
[9] HERRERA-AROZAMENA C,MARTÍ-MARÍ O,ESTRADA M,et al.recent advances in neurogenic small molecules as innovative treatments for neurodegenerative diseases[J].Molecules,2016,21(9):1165-1186.
[10] JOSHI C R,LABHASETWAR V,GHORPADE A.Destination brain:the past,present,and future of therapeutic gene delivery[J].J Neuroimmune Pharmacol,2017,12(1):51-83.
[11] COOREY B A,GOLD W A.Gold,breaking boundaries in the brain-advancesin editing tools for neurogenetic disorders[J].Front Genome Ed,2021,3:623519-623525.
[12] ANDERSON W F,BLAESE R M,CULVER K.The ADA human gene therapy clinical protocol:Points to consider response with clinical protocol,July 6,1990[J].Hum Gene Ther,1990,1(3):331-362.
[13] WANG D,TAI P W L,GAO G.Adeno-associated virus vector as a platform for gene therapy delivery[J].Nat Rev Drug Discov,2019,18(5):358-378.
[14] LISOWSKI L,DANE A P,Chu K,et al.Selection and evaluation of clinically relevant AAV variants in a xenograft liver model[J].Nature,2014,506(7488):382-386.
[15] AL-ZAIDY S A,KOLB S J,LOWES L,et al.AVXS-101(Onasemnogene Abeparvovec)for SMA1:Comparative study with a prospective natural history cohort[J].J Neuromuscul Dis,2019,6(3):307-317.
[16] CAIN J T,LIKHITE S,WHITE K A,et al.Gene therapy corrects brain and behavioral pathologies in CLN6-Batten dsease[J].Mol Ther,2019,27(10):1836-1847.
[17] TARDIEU M,ZÉRAH M,GOUGEON M L,et al.Intracerebral gene therapy in children with mucopolysaccharidosis type IIIB syndrome:an uncontrolled phase1/2 clinical trial[J].Lancet Neurol,2017,16(9):712-720.
[18] VAN ESCH H.MECP2 Duplication syndrome[J].Mol Syndromol,2012,2(3-5):128-136.
[19] CHEON C K,LIM S H,KIM Y M,et al.Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A,SPG30 gene[J].Sci Rep,2017,7(1):12527-12538.
[20] GLORIOSO J C,COHEN J B,CARLISLE D L,et al,Moving toward a gene therapy for Huntington's disease[J].Gene Ther,2015,22(12):931-933.
[21] BANAKAR R,SCHUBERT M,COLLINGWOOD M,et al,Comparison of CRISPR-Cas9/Cas12a ribonucleoprotein complexesfor genome editing efficiency in the rice phytoene desaturase(OsPDS)gene[J].Rice(N Y),2020,13(1):4-11.
[22] NIEMIEC E,HOWARD H C.Howard,Germline genome editing research:what are gamete donors(not)informed about in consent forms[J]?CRISPR J,2020,3(1):52-63.
[23] YLA-HERTTUALA,S.CRISPR/Cas9 and p53:An odd couple requiring relationship management[J].Mol Ther,2018,26(12):2711.
[24] WILSON K E,FISH A M,MANKIW C,et al.Modeling familial predictors of proband outcomes in neurogenetic disorders:initial application in XYY syndrome[J].J Neurodev Disord,2021,13(1):12-24.
[25] REILLY M M,HERRMANN D N,PAREYSON D,et al.Trials for slowly progressive neurogenetic diseases need surrogate endpoints[J].Ann Neurol,2023,93(5):906-910.
[26] DOIG D,THORNE L,REES J,et al.Clinical,imaging and neurogenetic features of patients with gliomatosis cerebri referred to a tertiary neuro-oncology centre[J].J Pers Med,2023,13(2):222-232.
[27] FENG J,ZHANG L,CHEN C,et al.A cognitive neurogenetic approach to uncovering the structure of executive functions[J].Nat Commun,2022,13(1):4588-4607.
[28] MILLER A P,GIZER I R.Dual-systems models of the genetic architecture of impulsive personality traits:Neurogenetic evidence of distinct but related factors[J].MedRxiv,2023,2(10):23285725.
[29] GLASSON E J,BUCKLEY N,CHEN W,et al.Systematic review and meta-analysis:mental health in children with neurogenetic disorders associated with intellectual disability[J].J Am Acad Child Adolesc Psychiatry,2020,59(9):1036-1048.
[30] CHURCH G M,GAO Y,KOSURI S.Next-generation digital information storage in DNA[J].Science,2012,337(6102):1628-1629.

服务与反馈:
文章下载】【发表评论】【查看评论】【加入收藏
提示:您还未登录,请登录!点此登录
您是第 757105 位访问者


 ©《现代医学》编辑部
联系电话:025-83272481;83272479
电子邮件: xdyx@pub.seu.edu.cn

苏ICP备09058541