[1]林雨洁,刘 红,王 钰.特发性震颤的遗传学研究[J].医学信息,2022,35(09):38-41.[doi:10.3969/j.issn.1006-1959.2022.09.009]
 LIN Yu-jie,LIU Hong,WANG Yu.Genetics of essential tremor[J].Medical Information,2022,35(09):38-41.[doi:10.3969/j.issn.1006-1959.2022.09.009]
点击复制

特发性震颤的遗传学研究()
分享到:

医学信息[ISSN:1006-1959/CN:61-1278/R]

卷:
35卷
期数:
2022年09期
页码:
38-41
栏目:
综述
出版日期:
2022-05-01

文章信息/Info

Title:
Genetics of essential tremor
文章编号:
1006-1959(2022)09-0038-04
作者:
林雨洁刘 红王 钰
(1.长治医学院附属和平医院神经内科,山西 长治 046000;2.天津医科大学总医院神经内科,天津 300052)
Author(s):
LIN Yu-jieLIU HongWANG Yu
(1.Department of Neurology,Heping Hospital Affiliated to Changzhi Medical College,Changzhi 046000,Shanxi,China;2.Department of Neurology,General Hospital of Tianjin Medical University,Tianjin 300052,China)
关键词:
特发性震颤基因外显子组测序全基因组关联分析
Keywords:
Essential tremorGenesExon sequencingGenome-wide association analysis
分类号:
R285.5
DOI:
10.3969/j.issn.1006-1959.2022.09.009
文献标志码:
A
摘要:
特发性震颤(ET)是神经系统最常见的运动障碍疾病,50%~70%的患者存在家族史。尽管有很高的患病率和遗传性,但ET的遗传病因仍不清楚。进行ET遗传学分析有助于进一步研究其病理生理机制,本文现结合ET的风险位点及致病基因对其遗传模式及机制进行阐述。
Abstract:
Essential tremor (ET) is the most common movement disorder of the nervous system, with a family history in approximately 50%-70% of patients. Despite the high prevalence and heritability, the genetic etiology of ET remains elusive. Performing ET genetic analysis can help to further investigate its pathophysiological mechanisms, therefore, the article describes the inheritance pattern and mechanisms of ET with respect to risk loci and causative genes.

参考文献/References:

[1]Haubenberger D,Hallett M.Essential Tremor[J].N Engl J Med,2018,378(19):1802-1810.[2]Louis ED.Non-motor symptoms in essential tremor:A review of the current data and state of the field[J].Parkinsonism Relat Disord,2016,22(S1):S115-S118.[3]Fois AF,Brice?觡o HM,Fung VSC.Nonmotor Symptoms in Essential Tremor and Other Tremor Disorders[J].Int Rev Neurobiol,2017,134:1373-1396.[4]Algarni M,Fasano A.The overlap between Essential tremor and Parkinson disease[J].Parkinsonism Relat Disord,2018,46(Suppl 1):S101-S104.[5]Tio M,Tan EK.Genetics of essential tremor[J].Parkinsonism Relat Disord,2016,22(Suppl 1):S176-178.[6]Jiménez-Jiménez FJ,Alonso-Navarro H,García-Martín E,et al.Update on genetics of essential tremor[J].Acta Neurol Scand,2013,128(6):359-371.[7]Deng H,Wu S,Jankovic J.Essential tremor:genetic update[J].Expert Rev Mol Med,2019,21:e8.[8]Liu X,Hernandez N,Kisselev S,et al.Identification of candidate genes for familial early-onset essential tremor[J].Eur J Hum Genet,2016,24(7):1009-1015.[9]He R,Han W,Song X,et al.Knockdown of Lingo-1 by short hairpin RNA promotes cognitive function recovery in a status convulsion model[J].3 Biotech,2021,11(7):339.[10]Anantha J,Goulding SR,Tuboly E,et al.NME1 Protects Against Neurotoxin-,α-Synuclein- and LRRK2-Induced Neurite Degeneration in Cell Models of Parkinson’s Disease[J].Mol Neurobiol,Epub 2021 Oct 8.[11]He Q,Jiang L,Zhang Y,et al.Anti-LINGO-1 antibody ameliorates cognitive impairment, promotes adult hippocampal neurogenesis,and increases the abundance of CB1R-rich CCK-GABAergic interneurons in AD mice[J].Neurobiol Dis,2021,156:105406.[12]Stefansson H,Steinberg S,Petursson H,et al.Variant in the sequence of the LINGO1 gene confers risk of essential tremor[J].Nat Genet,2009,41(3):277-279.[13]Gao T,Wu J,Zheng R,et al.Assessment of three essential tremor genetic loci in sporadic Parkinson’s disease in Eastern China[J].CNS Neurosci Ther,2020,26(4):448-452.[14]Jia W,Kim SH,Scalf MA,et al.Fused in sarcoma regulates DNA replication timing and kinetics[J].J Biol Chem,2021,297(3):101049.[15]Hopfner F,Stevanin G,Müller SH,et al.The impact of rare variants in FUS in essential tremor[J].Mov Disord,2015,30(5):721-724.[16]Merner ND,Girard SL,Catoire H,et al.Exome sequencing identifies FUS mutations as a cause of essential tremor[J].Am J Hum Genet,2012,91(2):313-319.[17]Rajput A,Rajput AH,Rajput ML,et al.Identification of FUS p.R377W in essential tremor[J].Eur J Neurol,2014,21(2):361-363.[18]Hopfner F,Stevanin G,Müller SH,et al.The impact of rare variants in FUS in essential tremor[J].Mov Disord,2015,30(5):721-724.[19]Yan YP,Xu CY,Gu LY,et al.Genetic testing of FUS,HTRA2,and TENM4 genes in Chinese patients with essential tremor[J].CNS Neurosci Ther,2020,26(8):837-841.[20]Hortmann M,Robinson S,Mohr M,et al.The mitochondria-targeting peptide elamipretide diminishes circulating HtrA2 in ST-segment elevation myocardial infarction[J].Eur Heart J Acute Cardiovasc Care,2019,8(8):695-702.[21]Wagh AR,Bose K.Structural basis of inactivation of human counterpart of mouse motor neuron degeneration 2 mutant in serine protease HtrA2[J].Biosci Rep,2018,38(5):BSR20181072.[22]Darreh-Shori T,Rezaeianyazdi S,Lana E,et al.Increased Active OMI/HTRA2 Serine Protease Displays a Positive Correlation with Cholinergic Alterations in the Alzheimer’s Disease Brain[J].Mol Neurobiol,2019,56(7):4601-4619.[23]He YC,Huang P,Li QQ,et al.Mutation Analysis of HTRA2 Gene in Chinese Familial Essential Tremor and Familial Parkinson’s Disease[J].Parkinsons Dis,2017,2017:3217474.[24]Unal Gulsuner H,Gulsuner S,Mercan FN,et al.Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease[J].Proc Natl Acad Sci U S A,2014,111(51):18285-18290.[25]Tzoulis C,Zayats T,Knappskog PM,et al.HTRA2 p.G399S in Parkinson disease,essential tremor,and tremulous cervical dystonia[J].Proc Natl Acad Sci U S A,2015,112(18):E2268.[26]Renaud M,Marcel C,Rudolf G,et al.A step toward essential tremor gene discovery:identification of extreme phenotype and screening of HTRA2 and ANO3[J].BMC Neurol,2016,16(1):238.[27]Pu JL,Gao T,Si XL,et al.Parkinson’s Disease in Teneurin Transmembrane Protein 4 (TENM4) Mutation Carriers[J].Front Genet,2020,11:598064.[28]Houle G,Schmouth JF,Leblond CS,et al.Teneurin transmembrane protein 4 is not a cause for essential tremor in a Canadian population[J].Mov Disord,2017,32(2):292-295.[29]Ciuculete DM,Bostr?觟m AE,Tuunainen AK,et al.Changes in methylation within the STK32B promoter are associated with an increased risk for generalized anxiety disorder in adolescents[J].J Psychiatr Res,2018,102:44-51.[30]Müller SH,Girard SL,Hopfner F,et al.Genome-wide association study in essential tremor identifies three new loci[J].Brain,2016,139(Pt 12):3163-3169.[31]Zhang Y,Zhao Y,Zhou X,et al.Assessment of Three New Loci from Genome-wide Association Study in Essential Tremor in Chinese population[J].Sci Rep,2017,7(1):7981.[32]Houle G,Ambalavanan A,Schmouth JF,et al.No rare deleterious variants from STK32B,PPARGC1A,and CTNNA3 are associated with essential tremor[J].Neurol Genet,2017,3(5):e195.[33]Liao C,Sarayloo F,Vuokila V,et al.Transcriptomic Changes Resulting From STK32B Overexpression Identify Pathways Potentially Relevant to Essential Tremor[J].Front Genet,2020,11:813.[34]Fiddes IT,Lodewijk GA,Mooring M,et al.Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis[J].Cell,2018,173(6):1356-1369.e22.[35]Sone J,Mori K,Inagaki T,et al.Clinicopathological features of adult-onset neuronal intranuclear inclusion disease[J].Brain,2016,139(Pt 12):3170-3186.[36]Ishiura H,Shibata S,Yoshimura J,et al.Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease,oculopharyngodistal myopathy and anoverlapping disease[J].Nat Genet,2019,51(8):1222-1232.[37]Sone J,Mitsuhashi S,Fujita A,et al.Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease[J].Nat Genet,2019,51(8):1215-1221.[38]Deng J,Gu M,Miao Y,et al.Long-read sequencing identified repeat expansions in the 5’UTR of the NOTCH2NLC gene from Chinese patients with neuronal intranuclear inclusion disease[J].J Med Genet,2019,56(11):758-764.[39]Ma D,Tan YJ,Ng ASL,et al.Association of NOTCH2NLC Repeat Expansions With Parkinson Disease[J].JAMA Neurol,2020,77(12):1559-1563.[40]Ng ASL,Lim WK,Xu Z,et al.NOTCH2NLC GGC Repeat Expansions Are Associated with Sporadic Essential Tremor:Variable Disease Expressivity on Long-Term Follow-up[J].Ann Neurol,2020,88(3):614-618.[41]Sun QY,Xu Q,Tian Y,et al.Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremor[J].Brain,2020,143(1):222-233.

相似文献/References:

[1]袁 帅,邢晓博,李 晓,等.MTHFR基因多态性与中年男性冠状动脉病变程度的相关研究[J].医学信息,2018,31(03):67.[doi:10.3969/j.issn.1006-1959.2018.03.021]
 YUAN Shuai,XING Xiao-bo,LI Xiao,et al.Association of MTHFR Gene Polymorphism with Coronary Artery Lesions in Middle-aged Men[J].Medical Information,2018,31(09):67.[doi:10.3969/j.issn.1006-1959.2018.03.021]
[2]林康杰,杨小敏.影响鼻咽癌放疗敏感性相关基因研究进展[J].医学信息,2018,31(22):26.[doi:10.3969/j.issn.1006-1959.2018.22.009]
 LIN Kang-jie,YANG Xiao-min.Advances in Research on Genes Related to Radiotherapy Sensitivity of Nasopharyngeal Carcinoma[J].Medical Information,2018,31(09):26.[doi:10.3969/j.issn.1006-1959.2018.22.009]
[3]黄 靖,陈卫银,王 悦.异染性脑白质营养不良研究概况[J].医学信息,2020,33(18):18.[doi:10.3969/j.issn.1006-1959.2020.18.006]
 HUANG Jing,CHEN Wei-yin,WANG Yue.General Situation of Studies on Metachromatic Leukodystrophy[J].Medical Information,2020,33(09):18.[doi:10.3969/j.issn.1006-1959.2020.18.006]
[4]蔡亚磊,邓思雨,杨 健.宫颈癌放疗增敏的研究现状[J].医学信息,2022,35(09):65.[doi:10.3969/j.issn.1006-1959.2022.09.016]
 CAI Ya-lei,DENG Si-yu,YANG Jian.Research Status of Radiotherapy Sensitization for Cervical Cancer[J].Medical Information,2022,35(09):65.[doi:10.3969/j.issn.1006-1959.2022.09.016]

更新日期/Last Update: 1900-01-01