Mutations in protein N-arginine methyltransferases are not the cause of FTLD-FUS

被引：12

作者：

Ravenscroft, Thomas A. ^{[1
]}

Baker, Matt C. ^{[1
]}

Rutherford, Nicola J. ^{[1
]}

Neumann, Manuela ^{[2
,3
]}

Mackenzie, Ian R. ^{[4
]}

Josephs, Keith A. ^{[5
]}

Boeve, Bradley F. ^{[5
]}

Petersen, Ronald ^{[5
]}

Halliday, Glenda M. ^{[6
]}

Kril, Jillian ^{[7
,8
,9
]}

van Swieten, John C. ^{[10
,11
]}

Seeley, William W. ^{[12
]}

Dickson, Dennis W. ^{[1
]}

Rademakers, Rosa ^{[1
]}

机构：

[1] Mayo Clin, Dept Neurosci, Jacksonville, FL 32224 USA

[2] Univ Tubingen, Dept Neuropathol, Tubingen, Germany

[3] German Ctr Neurodegenerat Dis, Tubingen, Germany

[4] Univ British Columbia, Dept Pathol & Lab Med, Vancouver, BC V5Z 1M9, Canada

[5] Mayo Clin, Dept Neurol, Rochester, MN USA

[6] Neurosci Res Australia, Sydney, NSW, Australia

[7] Univ New S Wales, UNSW Med, Sydney, NSW, Australia

[8] Univ Sydney, Sydney Med Sch, Discipline Med, Sydney, NSW 2006, Australia

[9] Univ Sydney, Sydney Med Sch, Discipline Pathol, Sydney, NSW 2006, Australia

[10] Erasmus MC, Dept Neurol, Rotterdam, Netherlands

[11] Vumc Alzheimerctr, Amsterdam, Netherlands

[12] Univ Calif San Francisco, Dept Neurol, San Francisco, CA USA

来源：

NEUROBIOLOGY OF AGING | 2013年 / 34卷 / 09期

基金：

英国医学研究理事会; 瑞士国家科学基金会; 加拿大健康研究院;

关键词：

Frontotemporal lobar degeneration; FUS; FET proteins; PRMT1; PRMT3; PRMT8; Protein N-arginine methyltransferase; AMYOTROPHIC-LATERAL-SCLEROSIS; FRONTOTEMPORAL LOBAR DEGENERATION; FET PROTEINS; METHYLATION; DEMENTIA; TAF15; GENE; EWS; ALS;

D O I：

10.1016/j.neurobiolaging.2013.04.004

中图分类号：

R592 [老年病学]; C [社会科学总论];

学科分类号：

03 ; 0303 ; 100203 ;

摘要：

The nuclear protein fused in sarcoma (FUS) is found in cytoplasmic inclusions in a subset of patients with the neurodegenerative disorder frontotemporal lobar degeneration (FTLD-FUS). FUS contains a methylated arginine-glycine-glycine domain that is required for transport into the nucleus. Recent findings have shown that this domain is hypomethylated in patients with FTLD-FUS. To determine whether the cause of hypomethylation is the result of mutations in protein N-arginine methyltransferases (PRMTs), we selected 3 candidate genes (PRMT1, PRMT3, and PRMT8) and performed complete sequencing analysis and real-time polymerase chain reaction mRNA expression analysis in 20 FTLD-FUS cases. No mutations or statistically significant changes in expression were observed in our patient samples, suggesting that defects in PRMTs are not the cause of FTLD-FUS. (C) 2013 Elsevier Inc. All rights reserved.

引用

页码：2235.e11 / 2235.e13

页数：3

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