Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

被引：354

作者：

Johnson, Janel O. ^{[1
]}

Pioro, Erik P. ^{[2
]}

Boehringer, Ashley ^{[3
]}

Chia, Ruth ^{[4
]}

Feit, Howard ^{[5
]}

Renton, Alan E. ^{[1
]}

Pliner, Hannah A. ^{[1
]}

Abramzon, Yevgeniya ^{[1
]}

Marangi, Giuseppe ^{[1
,6
]}

Winborn, Brett J. ^{[7
]}

Gibbs, J. Raphael ^{[8
,9
,10
]}

Nalls, Michael A. ^{[11
]}

Morgan, Sarah ^{[9
,10
]}

Shoai, Maryam ^{[9
,10
]}

Hardy, John ^{[9
,10
]}

Pittman, Alan ^{[9
,10
]}

Orrell, Richard W. ^{[12
]}

Malaspina, Andrea ^{[13
]}

Sidle, Katie C.

Fratta, Pietro ^{[14
]}

Harms, Matthew B. ^{[15
]}

Baloh, Robert H. ^{[16
]}

Pestronk, Alan ^{[15
]}

Weihl, Conrad C. ^{[15
]}

Rogaeva, Ekaterina ^{[17
]}

Zinman, Lorne ^{[18
]}

Drory, Vivian E. ^{[19
]}

Borghero, Giuseppe ^{[20
,21
]}

Mora, Gabriele ^{[22
]}

Calvo, Andrea ^{[23
]}

Rothstein, Jeffrey D. ^{[24
]}

Drepper, Carsten ^{[25
,26
]}

Sendtner, Michael ^{[25
]}

Singleton, Andrew B. ^{[11
]}

Taylor, J. Paul ^{[7
]}

Cookson, Mark R. ^{[4
]}

Restagno, Gabriella ^{[27
]}

Sabatelli, Mario ^{[28
,29
]}

Bowser, Robert ^{[3
]}

Chio, Adriano ^{[23
]}

Traynor, Bryan J. ^{[1
,24
]}

机构：

[1] NIA, Neuromuscular Dis Res Sect, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

[2] Cleveland Clin, Neurol Inst, Neuromuscular Ctr, Dept Neurol, Cleveland, OH 44106 USA

[3] Barrow Neurol Inst, Div Neurol, Phoenix, AZ 85013 USA

[4] NIA, Cell Biol & Gene Express Sect, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

[5] Henry Ford Hosp, Dept Neurol, Detroit, MI 48202 USA

[6] Univ Cattolica Sacro Cuore, Inst Med Genet, I-00168 Rome, Italy

[7] St Jude Childrens Res Hosp, Dept Cell & Mol Biol, Memphis, TN 38105 USA

[8] NIA, Computat Biol Core, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

[9] UCL, Inst Neurol, Dept Mol Neurosci, London, England

[10] UCL, Inst Neurol, Reta Lila Weston Labs, London, England

[11] NIA, Mol Genet Sect, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

[12] UCL, Inst Neurol, Dept Clin Neurosci, London, England

[13] Queen Mary Univ London, North East London & Essex Reg Motor Neuron Dis Ca, Blizard Inst, Ctr Neurosci & Trauma, London, England

[14] UCL, Dept Neurodegenerat Dis, London, England

[15] Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USA

[16] Cedars Sinai Med Ctr, Dept Neurol, Los Angeles, CA 90048 USA

[17] Univ Toronto, Dept Med, Div Neurol, Tanz Ctr Res Neurodegenerat Dis, Toronto, ON, Canada

[18] Univ Toronto, Sunnybrook Hlth Sci Ctr, Dept Internal Med, Div Neurol, Toronto, ON, Canada

[19] Tel Aviv Univ, Tel Aviv Sourasky Med Ctr, Dept Neurol, IL-69978 Tel Aviv, Israel

[20] Azienda Univ Osped Cagliari, Dept Neurol, Cagliari, Italy

[21] Univ Cagliari, Cagliari, Italy

[22] Salvatore Maugeri Fdn, ALS Ctr, Milan, Italy

[23] Univ Turin, Rita Levi Montalcini Dept Neurosci, Turin, Italy

[24] Johns Hopkins Univ, Dept Neurol, Brain Sci Inst, Baltimore, MD 21218 USA

[25] Univ Wurzburg, Inst Clin Neurobiol, D-97070 Wurzburg, Germany

[26] Univ Wurzburg, Dept Child & Adolescent Psychiat, D-97070 Wurzburg, Germany

[27] Azienda Sanit Osped Osped Infantile Regina Marghe, Dept Clin Pathol, Mol Genet Unit, Turin, Italy

[28] Catholic Univ, Neurol Inst, Rome, Italy

[29] Insieme Contro Malattie Motoneurone Assoc ALS Res, Rome, Italy

来源：

NATURE NEUROSCIENCE | 2014年 / 17卷 / 05期

基金：

英国惠康基金; 英国医学研究理事会; 美国国家卫生研究院;

关键词：

DOMINANT DISTAL MYOPATHY; NUCLEAR-MATRIX; PROTEIN; ALS; COMPLEXES;

D O I：

10.1038/nn.3688

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

MATR3 is an RNA- and DNA-binding protein that interacts with TDP-43, a disease protein linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. Using exome sequencing, we identified mutations in MATR3 in ALS kindreds. We also observed MATR3 pathology in ALS-affected spinal cords with and without MATR3 mutations. Our data provide more evidence supporting the role of aberrant RNA processing in motor neuron degeneration.

引用

页码：664 / +

页数：6

共 17 条

[1] Amyotrophic lateral sclerosis-related VAPB P56S mutation differentially affects the function and survival of corticospinal and spinal motor neurons [J].

Aliaga, Leonardo ;

Lai, Chen ;

Yu, Jia ;

Chub, Nikolai ;

Shim, Hoon ;

Sun, Lixin ;

Xie, Chengsong ;

Yang, Wan-Jou ;

Lin, Xian ;

O'Donovan, Michael J. ;

Cai, Huaibin .

HUMAN MOLECULAR GENETICS, 2013, 22 (21) :4293-4305

[2] Prognostic factors in ALS: A critical review [J].

Chio, Adriano ;

Logroscino, Giancarlo ;

Hardiman, Orla ;

Swingler, Robert ;

Mitchell, Douglas ;

Beghi, Ettore ;

Traynor, Bryan G. .

AMYOTROPHIC LATERAL SCLEROSIS, 2009, 10 (5-6) :310-323

[3] Cellular effects of LRRK2 mutations [J].

Cookson, Mark R. .

BIOCHEMICAL SOCIETY TRANSACTIONS, 2012, 40 :1070-1073

[4] The split hand syndrome in amyotrophic lateral sclerosis [J].

Eisen, Andrew ;

Kuwabara, Satoshi .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2012, 83 (04) :399-403

[5] Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy:: Clinical description and gene localization to 5q31 [J].

Feit, H ;

Silbergleit, A ;

Schneider, LB ;

Gutierrez, JA ;

Fitoussi, RP ;

Réyès, C ;

Rouleau, GA ;

Brais, B ;

Jackson, CE ;

Beckmann, JS ;

Seboun, E .

AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 63 (06) :1732-1742

[6] Activation of NMDA receptors induces protein kinase A-mediated phosphorylation and degradation of matrin 3.: Blocking these effects prevents NMDA-induced neuronal death [J].

Giordano, G ;

Sánchez-Pérez, AM ;

Montoliu, C ;

Berezney, R ;

Malyavantham, K ;

Costa, LG ;

Calvete, JJ ;

Felipo, V .

JOURNAL OF NEUROCHEMISTRY, 2005, 94 (03) :808-818

[7] Proteomic and functional analysis of Argonaute-containing mRNA-protein complexes in human cells [J].

Hoeck, Julia ;

Weinmann, Lasse ;

Ender, Christine ;

Ruedel, Sabine ;

Kremmer, Elisabeth ;

Raabe, Monika ;

Urlaub, Henning ;

Meister, Gunter .

EMBO REPORTS, 2007, 8 (11) :1052-1060

[8] Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS [J].

Johnson, Jane O. ;

Mandrioli, Jessica ;

Benatar, Michael ;

Abramzon, Yevgeniya ;

Van Deerlin, Vivianna M. ;

Trojanowski, John Q. ;

Gibbs, J. Raphael ;

Brunetti, Maura ;

Gronka, Susan ;

Wuu, Joanne ;

Ding, Jinhui ;

McCluskey, Leo ;

Martinez-Lage, Maria ;

Falcone, Dana ;

Hernandez, Dena G. ;

Arepalli, Sampath ;

Chong, Sean ;

Schymick, Jennifer C. ;

Rothstein, Jeffrey ;

Landi, Francesco ;

Wang, Yong-Dong ;

Calvo, Andrea ;

Mora, Gabriele ;

Sabatelli, Mario ;

Monsurro, Maria Rosaria ;

Battistini, Stefania ;

Salvi, Fabrizio ;

Spataro, Rossella ;

Sola, Patrizia ;

Borghero, Giuseppe ;

Galassi, Giuliana ;

Scholz, Sonja W. ;

Taylor, J. Paul ;

Restagno, Gabriella ;

Chio, Adriano ;

Traynor, Bryan J. .

NEURON, 2010, 68 (05) :857-864

[9] Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS [J].

Kim, Hong Joo ;

Kim, Nam Chul ;

Wang, Yong-Dong ;

Scarborough, Emily A. ;

Moore, Jennifer ;

Diaz, Zamia ;

MacLea, Kyle S. ;

Freibaum, Brian ;

Li, Songqing ;

Molliex, Amandine ;

Kanagaraj, Anderson P. ;

Carter, Robert ;

Boylan, Kevin B. ;

Wojtas, Aleksandra M. ;

Rademakers, Rosa ;

Pinkus, Jack L. ;

Greenberg, Steven A. ;

Trojanowski, John Q. ;

Traynor, Bryan J. ;

Smith, Bradley N. ;

Topp, Simon ;

Gkazi, Athina-Soragia ;

Miller, Jack ;

Shaw, Christopher E. ;

Kottlors, Michael ;

Kirschner, Janbernd ;

Pestronk, Alan ;

Li, Yun R. ;

Ford, Alice Flynn ;

Gitler, Aaron D. ;

Benatar, Michael ;

King, Oliver D. ;

Kimonis, Virginia E. ;

Ross, Eric D. ;

Weihl, Conrad C. ;

Shorter, James ;

Taylor, J. Paul .

NATURE, 2013, 495 (7442) :467-+

[10] ALS-associated mutations in TDP-43 increase its stability and promote TDP-43 complexes with FUS/TLS [J].

Ling, Shuo-Chien ;

Albuquerque, Claudio P. ;

Han, Joo Seok ;

Lagier-Tourenne, Clotilde ;

Tokunaga, Seiya ;

Zhou, Huilin ;

Cleveland, Don W. .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2010, 107 (30) :13318-13323

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