Hicham El Otmani, Mohamed Daghi, Nadia Tahiri Jouti, Suzanne Lesage
{"title":"帕金森病中 LRRK2 基因突变的全球分布概况。","authors":"Hicham El Otmani, Mohamed Daghi, Nadia Tahiri Jouti, Suzanne Lesage","doi":"10.2217/nmt-2023-0025","DOIUrl":null,"url":null,"abstract":"<p><p>Parkinson's disease (PD) is a neurodegenerative disorder with significant genetic influence. The <i>LRRK2</i> gene is a major genetic contributor, particularly the Gly2019Ser mutation. This focused review investigates the global distribution of <i>LRRK2</i> mutations, with emphasis on Gly2019Ser and other pathogenic variants. Prevalence rates of Gly2019Ser are highest in North Africa and the Ashkenazi-Jewish population, indicating a potential common ancestor and founder effect. Other <i>LRRK2</i> mutations, including Asn1437His, Arg1441Gly/Cys/His, Tyr1699Cys and Ile2020Thr, exhibit varying global prevalences. Understanding these distributions enhances our knowledge of PD genetics and aids personalized medicine. Further research is crucial to unravel clinical implications and develop targeted therapies for <i>LRRK2</i> mutation carriers.</p>","PeriodicalId":19114,"journal":{"name":"Neurodegenerative disease management","volume":null,"pages":null},"PeriodicalIF":2.3000,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"An overview of the worldwide distribution of <i>LRRK2</i> mutations in Parkinson's disease.\",\"authors\":\"Hicham El Otmani, Mohamed Daghi, Nadia Tahiri Jouti, Suzanne Lesage\",\"doi\":\"10.2217/nmt-2023-0025\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Parkinson's disease (PD) is a neurodegenerative disorder with significant genetic influence. The <i>LRRK2</i> gene is a major genetic contributor, particularly the Gly2019Ser mutation. This focused review investigates the global distribution of <i>LRRK2</i> mutations, with emphasis on Gly2019Ser and other pathogenic variants. Prevalence rates of Gly2019Ser are highest in North Africa and the Ashkenazi-Jewish population, indicating a potential common ancestor and founder effect. Other <i>LRRK2</i> mutations, including Asn1437His, Arg1441Gly/Cys/His, Tyr1699Cys and Ile2020Thr, exhibit varying global prevalences. Understanding these distributions enhances our knowledge of PD genetics and aids personalized medicine. Further research is crucial to unravel clinical implications and develop targeted therapies for <i>LRRK2</i> mutation carriers.</p>\",\"PeriodicalId\":19114,\"journal\":{\"name\":\"Neurodegenerative disease management\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":2.3000,\"publicationDate\":\"2023-12-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Neurodegenerative disease management\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.2217/nmt-2023-0025\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/2/2 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q3\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Neurodegenerative disease management","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.2217/nmt-2023-0025","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/2/2 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
An overview of the worldwide distribution of LRRK2 mutations in Parkinson's disease.
Parkinson's disease (PD) is a neurodegenerative disorder with significant genetic influence. The LRRK2 gene is a major genetic contributor, particularly the Gly2019Ser mutation. This focused review investigates the global distribution of LRRK2 mutations, with emphasis on Gly2019Ser and other pathogenic variants. Prevalence rates of Gly2019Ser are highest in North Africa and the Ashkenazi-Jewish population, indicating a potential common ancestor and founder effect. Other LRRK2 mutations, including Asn1437His, Arg1441Gly/Cys/His, Tyr1699Cys and Ile2020Thr, exhibit varying global prevalences. Understanding these distributions enhances our knowledge of PD genetics and aids personalized medicine. Further research is crucial to unravel clinical implications and develop targeted therapies for LRRK2 mutation carriers.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
