{"title":"里程碑回顾：阿尔茨海默病分子遗传学分析的历史","authors":"John Hardy","doi":"10.1111/jnc.70148","DOIUrl":null,"url":null,"abstract":"<p>Alzheimer research has been driven by genetic findings: from the 1990s until about 2005, by the identification of amyloid precursor protein (<i>APP</i>) and presenilin (<i>PSEN</i>) mutations, leading to the formulation of the amyloid hypothesis, and then from ~2007 by genome-wide studies which have led to the increasing appreciation of the importance of microglial insufficiency in the disease pathogenesis. These genome findings have led not only to key mechanistic insights but also to progress in the use of genetic data to predict those at high risk of the disease so that earlier treatment becomes more practical. In this review I will outline these developments and attempts to synthesise the findings into a coherent single view of the disease.\n <figure>\n <div><picture>\n <source></source></picture><p></p>\n </div>\n </figure></p>","PeriodicalId":16527,"journal":{"name":"Journal of Neurochemistry","volume":"169 7","pages":""},"PeriodicalIF":4.0000,"publicationDate":"2025-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jnc.70148","citationCount":"0","resultStr":"{\"title\":\"Milestone Review: The History of Molecular Genetics Analysis of Alzheimer's Disease\",\"authors\":\"John Hardy\",\"doi\":\"10.1111/jnc.70148\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p>Alzheimer research has been driven by genetic findings: from the 1990s until about 2005, by the identification of amyloid precursor protein (<i>APP</i>) and presenilin (<i>PSEN</i>) mutations, leading to the formulation of the amyloid hypothesis, and then from ~2007 by genome-wide studies which have led to the increasing appreciation of the importance of microglial insufficiency in the disease pathogenesis. These genome findings have led not only to key mechanistic insights but also to progress in the use of genetic data to predict those at high risk of the disease so that earlier treatment becomes more practical. In this review I will outline these developments and attempts to synthesise the findings into a coherent single view of the disease.\\n <figure>\\n <div><picture>\\n <source></source></picture><p></p>\\n </div>\\n </figure></p>\",\"PeriodicalId\":16527,\"journal\":{\"name\":\"Journal of Neurochemistry\",\"volume\":\"169 7\",\"pages\":\"\"},\"PeriodicalIF\":4.0000,\"publicationDate\":\"2025-07-02\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://onlinelibrary.wiley.com/doi/epdf/10.1111/jnc.70148\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Neurochemistry\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://onlinelibrary.wiley.com/doi/10.1111/jnc.70148\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"BIOCHEMISTRY & MOLECULAR BIOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Neurochemistry","FirstCategoryId":"3","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1111/jnc.70148","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"BIOCHEMISTRY & MOLECULAR BIOLOGY","Score":null,"Total":0}
Milestone Review: The History of Molecular Genetics Analysis of Alzheimer's Disease
Alzheimer research has been driven by genetic findings: from the 1990s until about 2005, by the identification of amyloid precursor protein (APP) and presenilin (PSEN) mutations, leading to the formulation of the amyloid hypothesis, and then from ~2007 by genome-wide studies which have led to the increasing appreciation of the importance of microglial insufficiency in the disease pathogenesis. These genome findings have led not only to key mechanistic insights but also to progress in the use of genetic data to predict those at high risk of the disease so that earlier treatment becomes more practical. In this review I will outline these developments and attempts to synthesise the findings into a coherent single view of the disease.
期刊介绍：
Journal of Neurochemistry focuses on molecular, cellular and biochemical aspects of the nervous system, the pathogenesis of neurological disorders and the development of disease specific biomarkers. It is devoted to the prompt publication of original findings of the highest scientific priority and value that provide novel mechanistic insights, represent a clear advance over previous studies and have the potential to generate exciting future research.
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