摘要
神经退行性疾病的遗传学在阐明疾病的发病机理、诊断、最终的治疗和伦理蕴意中起重要作用。此外,用遗传学方法对痴呆的主要临床形式(阿尔茨海默氏病-AD和额颞痴呆-FTD)的研究可以提出临床指南来帮助家庭来区分这些复杂性疾病。AD和FTD都是包含有许多候选基因的多因素、复杂遗传性疾病。三个基因(淀粉样前体蛋白;早老蛋白1;早老蛋白2)中的突变与50%家庭中AD(FAD)的形成有关。全基因组关联研究(GWAS)涉及了越来越多的基因在疾病的发病机制中可能发挥的作用。到目前为止,对FTD的家族型的遗传学涉及了7个基因:微管相关蛋白tau(MAPT),颗粒蛋白前体(GRN),含缬酪肽蛋白 (VCP),染色质修饰蛋白2B(CHMP2B),TARBDP43结合蛋白编码基因(TARBDP), 肉瘤融合(FUS), 和最后的六核苷酸重复扩张的9号染色体开放阅读框(C9orf72)。检测前咨询和遗传缺陷的鉴定对有风险的家庭中患者和无症状成员都很重要。
关键词: 阿尔茨海默氏病,痴呆,额颞痴呆,遗传学,全基因组关联研究,突变
Current Molecular Medicine
Title:Genetics of Alzheimer's Disease and Frontotemporal Dementia
Volume: 14 Issue: 8
Author(s): B. Nacmias, I. Piaceri, S. Bagnoli, A. Tedde, S. Piacentini and S. Sorbi
Affiliation:
关键词: 阿尔茨海默氏病,痴呆,额颞痴呆,遗传学,全基因组关联研究,突变
摘要: The genetics of neurodegenerative diseases has an important role to clarify the pathogenetic mechanism, the diagnosis and finally the therapeutic and ethical implications.
Moreover, the genetic approach to the study of the main clinical forms of dementia (Alzheimer’s disease-AD and Frontotemporal Dementia-FTD) suggests clinical guidelines for helping families to navigate through these complexities. AD and FTD are multifactorial, genetically complex diseases involving many candidate genes.
Mutations in three genes (i.e. Amyloid Precursor Protein, APP; presenilin 1, PSEN1; presenilin 2, PSEN2) have been linked to 50% of all familial forms of AD (FAD).
Genome wide association studies (GWAS) have involved an increasing number of genes with a possible role in the disease pathogenesis. Up to now, the genetics of familial forms of FTD is related to 7 genes: the microtubule-associated protein tau (MAPT) progranulin (GRN), the valosin-containing protein (VCP), chromatin-modifying 2B (CHMP2B), the TARDNA binding protein 43 encoding gene (TARBDP), fused in sarcoma (FUS) and the last hexanucleotide expansion repeats in the open reading frame of chromosome 9 (C9orf72).
Pre-test counseling and the identification of genetic defects are important in both patients and asymptomatic at risk family members.
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Cite this article as:
Nacmias B., Piaceri I., Bagnoli S., Tedde A., Piacentini S. and Sorbi S., Genetics of Alzheimer's Disease and Frontotemporal Dementia, Current Molecular Medicine 2014; 14 (8) . https://dx.doi.org/10.2174/1566524014666141010152143
DOI https://dx.doi.org/10.2174/1566524014666141010152143 |
Print ISSN 1566-5240 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5666 |
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