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TMEM106B risk variant is implicated in the pathologic presentation of Alzheimer disease.

作者信息

Rutherford Nicola J, Carrasquillo Minerva M, Li Ma, Bisceglio Gina, Menke Joshua, Josephs Keith A, Parisi Joseph E, Petersen Ronald C, Graff-Radford Neill R, Younkin Steven G, Dickson Dennis W, Rademakers Rosa

机构信息

Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL, USA.

出版信息

Neurology. 2012 Aug 14;79(7):717-8. doi: 10.1212/WNL.0b013e318264e3ac. Epub 2012 Aug 1.

DOI:10.1212/WNL.0b013e318264e3ac
PMID:22855871
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3467659/
Abstract
摘要

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TMEM106B risk variant is implicated in the pathologic presentation of Alzheimer disease.跨膜蛋白106B风险变异与阿尔茨海默病的病理表现有关。
Neurology. 2012 Aug 14;79(7):717-8. doi: 10.1212/WNL.0b013e318264e3ac. Epub 2012 Aug 1.
2
TDP-43 pathology in primary progressive aphasia and frontotemporal dementia with pathologic Alzheimer disease.TDP-43 病理学在原发性进行性失语症和额颞叶痴呆伴病理性阿尔茨海默病中的表现。
Acta Neuropathol. 2010 Jul;120(1):43-54. doi: 10.1007/s00401-010-0681-2. Epub 2010 Apr 2.
3
TMEM106B and APOE polymorphisms interact to confer risk for late-onset Alzheimer's disease in Han Chinese.TMEM106B 和 APOE 多态性相互作用，使汉族人群易患晚发性阿尔茨海默病。
J Neural Transm (Vienna). 2014;121(3):283-7. doi: 10.1007/s00702-013-1106-x. Epub 2013 Oct 29.
4
Reassessment of risk genotypes (GRN, TMEM106B, and ABCC9 variants) associated with hippocampal sclerosis of aging pathology.对与衰老病理学海马硬化相关的风险基因型（GRN、TMEM106B和ABCC9变体）的重新评估。
J Neuropathol Exp Neurol. 2015 Jan;74(1):75-84. doi: 10.1097/NEN.0000000000000151.
5
rs1990622 variant associates with Alzheimer's disease and regulates TMEM106B expression in human brain tissues.rs1990622 变异与阿尔茨海默病相关，并调节人脑组织中 TMEM106B 的表达。
BMC Med. 2021 Jan 19;19(1):11. doi: 10.1186/s12916-020-01883-5.
6
Analysis of genes (TMEM106B, GRN, ABCC9, KCNMB2, and APOE) implicated in risk for LATE-NC and hippocampal sclerosis provides pathogenetic insights: a retrospective genetic association study.分析与 LATE-NC 和海马硬化相关的基因（TMEM106B、GRN、ABCC9、KCNMB2 和 APOE）提供发病机制见解：一项回顾性遗传关联研究。
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Association of TMEM106B with Cortical Gene Expression in Neurodegenerative Conditions.跨膜蛋白106B（TMEM106B）与神经退行性疾病中皮质基因表达的关联。
Genes (Basel). 2024 Mar 26;15(4):416. doi: 10.3390/genes15040416.
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The TMEM106B FTLD-protective variant, rs1990621, is also associated with increased neuronal proportion.TMEM106B 额颞叶痴呆保护变体 rs1990621 也与神经元比例增加有关。
Acta Neuropathol. 2020 Jan;139(1):45-61. doi: 10.1007/s00401-019-02066-0. Epub 2019 Aug 27.
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Differential clinicopathologic and genetic features of late-onset amnestic dementias.迟发性遗忘性痴呆的临床病理和遗传特征差异
Acta Neuropathol. 2014 Sep;128(3):411-21. doi: 10.1007/s00401-014-1302-2. Epub 2014 Jun 5.
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Hippocampal sclerosis in Lewy body disease is a TDP-43 proteinopathy similar to FTLD-TDP Type A.路易体病中的海马硬化是一种与A型额颞叶痴呆-TDP相似的TDP-43蛋白病。
Acta Neuropathol. 2015 Jan;129(1):53-64. doi: 10.1007/s00401-014-1358-z. Epub 2014 Nov 4.

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Divergent and convergent TMEM106B pathology in murine models of neurodegeneration and human disease.神经退行性变小鼠模型和人类疾病中TMEM106B的不同和趋同病理学表现
Acta Neuropathol Commun. 2025 Aug 9;13(1):169. doi: 10.1186/s40478-025-02087-9.
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Myristoylation of TMEM106B by NMT1/2 regulates TMEM106B trafficking and turnover.NMT1/2对跨膜蛋白106B（TMEM106B）的肉豆蔻酰化修饰调节了TMEM106B的运输和周转。
J Biol Chem. 2025 May 30;301(7):110322. doi: 10.1016/j.jbc.2025.110322.
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Tracing TMEM106B fibril deposition in aging and Parkinson's disease with dementia brains.追踪衰老和帕金森病伴痴呆症大脑中TMEM106B原纤维沉积情况。
Life Med. 2024 Mar 7;3(1):lnae011. doi: 10.1093/lifemedi/lnae011. eCollection 2024 Feb.
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Divergent and Convergent TMEM106B Pathology in Murine Models of Neurodegeneration and Human Disease.神经退行性变小鼠模型和人类疾病中TMEM106B的不同与趋同病理学
Res Sq. 2024 Nov 19:rs.3.rs-5306005. doi: 10.21203/rs.3.rs-5306005/v1.
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Gene-Specific Effects on Brain Volume and Cognition of in Frontotemporal Lobar Degeneration.在额颞叶痴呆中对脑容量和认知的基因特异性影响。
Neurology. 2024 Oct 22;103(8):e209832. doi: 10.1212/WNL.0000000000209832. Epub 2024 Sep 25.
6
Hypomyelination Leukodystrophy 16 (HLD16)-Associated Mutation p.Asp252Asn of TMEM106B Blunts Cell Morphological Differentiation.低髓鞘形成性脑白质营养不良16（HLD16）相关的跨膜蛋白106B（TMEM106B）突变p.Asp252Asn削弱细胞形态分化。
Curr Issues Mol Biol. 2024 Jul 27;46(8):8088-8103. doi: 10.3390/cimb46080478.
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Physiological and pathological functions of TMEM106B in neurodegenerative diseases.TMEM106B 在神经退行性疾病中的生理和病理功能。
Cell Mol Life Sci. 2024 May 6;81(1):209. doi: 10.1007/s00018-024-05241-z.
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Association of TMEM106B with Cortical Gene Expression in Neurodegenerative Conditions.跨膜蛋白106B（TMEM106B）与神经退行性疾病中皮质基因表达的关联。
Genes (Basel). 2024 Mar 26;15(4):416. doi: 10.3390/genes15040416.
9
Gene specific effects on brain volume and cognition of in frontotemporal lobar degeneration.基因对额颞叶痴呆脑容量和认知功能的特异性影响。
medRxiv. 2024 Apr 5:2024.04.05.24305253. doi: 10.1101/2024.04.05.24305253.
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Limbic-predominant age-related TDP-43 encephalopathy (LATE-NC): Co-pathologies and genetic risk factors provide clues about pathogenesis.以边缘系统为主的与年龄相关的 TDP-43 脑病（LATE-NC）：共病和遗传风险因素为发病机制提供线索。
J Neuropathol Exp Neurol. 2024 May 22;83(6):396-415. doi: 10.1093/jnen/nlae032.

本文引用的文献

1
TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers.TMEM106B 调节颗粒蛋白前体水平和 GRN 突变携带者额颞叶痴呆的外显率。
Neurology. 2011 Feb 1;76(5):467-74. doi: 10.1212/WNL.0b013e31820a0e3b. Epub 2010 Dec 22.
2
Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions.7p21 常见变异与含有 TDP-43 包涵体的额颞叶变性有关。
Nat Genet. 2010 Mar;42(3):234-9. doi: 10.1038/ng.536. Epub 2010 Feb 14.
3
Aberrant cleavage of TDP-43 enhances aggregation and cellular toxicity.TDP-43的异常切割会增强聚集和细胞毒性。
Proc Natl Acad Sci U S A. 2009 May 5;106(18):7607-12. doi: 10.1073/pnas.0900688106. Epub 2009 Apr 21.
4
Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia.GRN基因miR-659结合位点的常见变异是TDP43阳性额颞叶痴呆的主要危险因素。
Hum Mol Genet. 2008 Dec 1;17(23):3631-42. doi: 10.1093/hmg/ddn257. Epub 2008 Aug 21.
5
Progranulin mediates caspase-dependent cleavage of TAR DNA binding protein-43.颗粒蛋白前体介导TAR DNA结合蛋白43的半胱天冬酶依赖性切割。
J Neurosci. 2007 Sep 26;27(39):10530-4. doi: 10.1523/JNEUROSCI.3421-07.2007.
6
TDP-43 immunoreactivity in hippocampal sclerosis and Alzheimer's disease.海马硬化和阿尔茨海默病中的TDP-43免疫反应性。
Ann Neurol. 2007 May;61(5):435-45. doi: 10.1002/ana.21154.
7
Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.额颞叶痴呆和肌萎缩侧索硬化症中泛素化的TDP-43
Science. 2006 Oct 6;314(5796):130-3. doi: 10.1126/science.1134108.