帕金森病中 LRRK2 基因突变的全球分布概况。

IF 2.3 Q3 CLINICAL NEUROLOGY Neurodegenerative disease management Pub Date : 2023-12-01 Epub Date: 2024-02-02 DOI:10.2217/nmt-2023-0025
Hicham El Otmani, Mohamed Daghi, Nadia Tahiri Jouti, Suzanne Lesage
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引用次数: 0

摘要

帕金森病(PD)是一种神经退行性疾病,具有重要的遗传影响。LRRK2 基因是主要的遗传因素,尤其是 Gly2019Ser 突变。这篇重点综述调查了 LRRK2 基因突变的全球分布情况,重点是 Gly2019Ser 和其他致病变体。Gly2019Ser 的流行率在北非和阿什肯纳齐-犹太人群中最高,这表明可能存在共同祖先和创始人效应。其他 LRRK2 突变,包括 Asn1437His、Arg1441Gly/Cys/His、Tyr1699Cys 和 Ile2020Thr,在全球的流行率各不相同。了解这些分布情况有助于增进我们对帕金森病遗传学的了解,并有助于个性化医疗。进一步的研究对于揭示临床影响和开发针对 LRRK2 突变携带者的靶向疗法至关重要。
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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.

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CiteScore
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发文量
35
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