Mutations in the gene encoding p62 in Japanese patients with amyotrophic lateral sclerosis

被引：68

作者：

Hirano, Makito ^{[1
]}

Nakamura, Yusaku ^{[1
]}

Saigoh, Kazumasa ^{[2
]}

Sakamoto, Hikaru ^{[1
]}

Ueno, Shuichi ^{[1
]}

Isono, Chiharu ^{[1
]}

Miyamoto, Katsuichi ^{[2
]}

Akamatsu, Maiko ^{[3
]}

Mitsui, Yoshiyuki ^{[2
]}

Kusunoki, Susumu ^{[2
]}

机构：

[1] Kinki Univ, Fac Med, Sakai Hosp, Dept Neurol, Osaka, Japan

[2] Kinki Univ, Fac Med, Dept Neurol, Osaka, Japan

[3] Kongo Hosp, Dept Neurol, Osaka, Japan

来源：

NEUROLOGY | 2013年 / 80卷 / 05期

关键词：

CU/ZN SUPEROXIDE-DISMUTASE; PAGETS-DISEASE; HEXANUCLEOTIDE REPEAT; PROTEIN; BONE; ALS; PHENOTYPE; C9ORF72; SQSTM1; REGION;

D O I：

10.1212/WNL.0b013e31827f0fe5

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Objective: The purpose of this study was to find mutations in the SQSTM1 gene encoding p62 in Japanese patients with amyotrophic lateral sclerosis (ALS), since this gene has been recently identified as a causative gene for familial and sporadic ALS in the United States. Methods: We sequenced this gene in 61 Japanese patients with sporadic and familial ALS. To our knowledge, we describe for the first time the clinical information of such mutation-positive patients. Results: We found novel mutations, p.Ala53Thr and p.Pro439Leu, in 2 patients with sporadic ALS. The clinical picture of the mutation-positive patients was that of typical ALS with varied upper motor neuron signs. Although this gene is causative for another disease, Paget disease of bone (PDB), none of our patients showed evidence of concomitant PDB. Conclusion: The presence of mutations in this racial population suggests worldwide, common involvement of the SQSTM1 gene in ALS. Neurology (R) 2013;80:458-463

引用

页码：458 / 463

页数：6

共 31 条

[1] A method and server for predicting damaging missense mutations [J].

Adzhubei, Ivan A. ;

Schmidt, Steffen ;

Peshkin, Leonid ;

Ramensky, Vasily E. ;

Gerasimova, Anna ;

Bork, Peer ;

Kondrashov, Alexey S. ;

Sunyaev, Shamil R. .

NATURE METHODS, 2010, 7 (04) :248-249

[2] Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone [J].

Albagha, Omar M. E. ;

Visconti, Micaela R. ;

Alonso, Nerea ;

Langston, Anne L. ;

Cundy, Tim ;

Dargie, Rosemary ;

Dunlop, Malcolm G. ;

Fraser, William D. ;

Hooper, Michael J. ;

Isaia, Gianluca ;

Nicholson, Geoff C. ;

del Pino Montes, Javier ;

Gonzalez-Sarmiento, Rogelio ;

di Stefano, Marco ;

Tenesa, Albert ;

Walsh, John P. ;

Ralston, Stuart H. .

NATURE GENETICS, 2010, 42 (06) :520-U26

[3] Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS [J].

DeJesus-Hernandez, Mariely ;

Mackenzie, Ian R. ;

Boeve, Bradley F. ;

Boxer, Adam L. ;

Baker, Matt ;

Rutherford, Nicola J. ;

Nicholson, Alexandra M. ;

Finch, NiCole A. ;

Flynn, Heather ;

Adamson, Jennifer ;

Kouri, Naomi ;

Wojtas, Aleksandra ;

Sengdy, Pheth ;

Hsiung, Ging-Yuek R. ;

Karydas, Anna ;

Seeley, William W. ;

Josephs, Keith A. ;

Coppola, Giovanni ;

Geschwind, Daniel H. ;

Wszolek, Zbigniew K. ;

Feldman, Howard ;

Knopman, David S. ;

Petersen, Ronald C. ;

Miller, Bruce L. ;

Dickson, Dennis W. ;

Boylan, Kevin B. ;

Graff-Radford, Neill R. ;

Rademakers, Rosa .

NEURON, 2011, 72 (02) :245-256

[4] AMYOTROPHIC-LATERAL-SCLEROSIS AND STRUCTURAL DEFECTS IN CU,ZN SUPEROXIDE-DISMUTASE [J].

DENG, HX ;

HENTATI, A ;

TAINER, JA ;

IQBAL, Z ;

CAYABYAB, A ;

HUNG, WY ;

GETZOFF, ED ;

HU, P ;

HERZFELDT, B ;

ROOS, RP ;

WARNER, C ;

DENG, G ;

SORIANO, E ;

SMYTH, C ;

PARGE, HE ;

AHMED, A ;

ROSES, AD ;

HALLEWELL, RA ;

PERICAKVANCE, MA ;

SIDDIQUE, T .

SCIENCE, 1993, 261 (5124) :1047-1051

[5] Conversion to the amyotrophic lateral sclerosis phenotype is associated with intermolecular linked insoluble aggregates of SOD1 in mitochondria [J].

Deng, HX ;

Shi, Y ;

Furukawa, Y ;

Zhai, H ;

Fu, RG ;

Liu, ED ;

Gorrie, GH ;

Khan, MS ;

Hung, WY ;

Bigio, EH ;

Lukas, T ;

Dal Canto, MC ;

O'Halloran, TV ;

Siddique, T .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2006, 103 (18) :7142-7147

[6] Oxidative damage to the promoter region of SQSTM1/p62 is common to neurodegenerative disease [J].

Du, Yifeng ;

Wooten, Michael C. ;

Wooten, Marie W. .

NEUROBIOLOGY OF DISEASE, 2009, 35 (02) :302-310

[7] SQSTM1 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis [J].

Fecto, Faisal ;

Yan, Jianhua ;

Vemula, S. Pavan ;

Liu, Erdong ;

Yang, Yi ;

Chen, Wenjie ;

Zheng, Jian Guo ;

Shi, Yong ;

Siddique, Nailah ;

Arrat, Hasan ;

Donkervoort, Sandra ;

Ajroud-Driss, Senda ;

Sufit, Robert L. ;

Heller, Scott L. ;

Deng, Han-Xiang ;

Siddique, Teepu .

ARCHIVES OF NEUROLOGY, 2011, 68 (11) :1440-1446

[8] PMUT:: a web-based tool for the annotation of pathological mutations on proteins [J].

Ferrer-Costa, C ;

Gelpí, JL ;

Zamakola, L ;

Parraga, I ;

de la Cruz, X ;

Orozco, M .

BIOINFORMATICS, 2005, 21 (14) :3176-3178

[9] Using SIFT and PolyPhen to Predict Loss-of-Function and Gain-of-Function Mutations [J].

Flanagan, Sarah E. ;

Patch, Ann-Marie ;

Ellard, Sian .

GENETIC TESTING AND MOLECULAR BIOMARKERS, 2010, 14 (04) :533-537

[10] p62 accumulates and enhances aggregate formation in model systems of familial amyotrophic lateral sclerosis [J].

Gal, Jozsef ;

Strom, Anna-Lena ;

Kilty, Renee ;

Zhang, Fujian ;

Zhu, Haining .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2007, 282 (15) :11068-11077

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