Genetic causes of amyotrophic lateral sclerosis: New genetic analysis methodologies entailing new opportunities and challenges

被引：104
作者：
Marangi, Giuseppe [1 ,2 ]
Traynor, Bryan J. [1 ,3 ]
机构：
[1] NIA, Neuromuscular Dis Res Sect, Neurogenet Lab, Bethesda, MD 20892 USA
[2] Univ Cattolica Sacro Cuore, Inst Med Genet, I-00168 Rome, Italy
[3] Johns Hopkins Sch Med, Dept Neurol, Baltimore, MD USA
来源：
BRAIN RESEARCH | 2015年 / 1607卷
关键词：
Amyotrophic lateral sclerosis; Gene discovery; Genetic heterogeneity; GWAS; NGS; Somatic mosaicism; GENOME-WIDE ASSOCIATION; DE-NOVO MUTATIONS; COPY NUMBER VARIATION; FRONTOTEMPORAL LOBAR DEGENERATION; HEXANUCLEOTIDE REPEAT EXPANSION; HEAVY NEUROFILAMENT SUBUNIT; HOMOZYGOUS SMN2 DELETION; SUPEROXIDE-DISMUTASE; RISK-FACTOR; SQSTM1; MUTATIONS;
D O I：
10.1016/j.brainres.2014.10.009
中图分类号：
Q189 [神经科学];
学科分类号：
071006 ;
摘要：
The genetic architecture of amyotrophic lateral sclerosis (ALS) is being increasingly understood. In this far-reaching review, we examine what is currently known about ALS genetics and how these genes were initially identified. We also discuss the various types of mutations that might underlie this fatal neurodegenerative condition and outline some of the strategies that might be useful in untangling them. These include expansions of short repeat sequences, common and low-frequency genetic variations, de novo mutations, epigenetic changes, somatic mutations, epistasis, oligogenic and polygenic hypotheses. This article is part of a Special Issue entitled ALS complex pathogenesis. Published by Elsevier B.V.
引用
收藏
页码：75 / 93
页数：19
相关论文
共 198 条
  • [81] A Seeding Reaction Recapitulates Intracellular Formation of Sarkosyl-insoluble Transactivation Response Element (TAR) DNA-binding Protein-43 Inclusions
    Furukawa, Yoshiaki
    Kaneko, Kumi
    Watanabe, Shoji
    Yamanaka, Koji
    Nukina, Nobuyuki
    [J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 2011, 286 (21) : 18664 - 18672
  • [82] Disease gene identification strategies for exome sequencing
    Gilissen, Christian
    Hoischen, Alexander
    Brunner, Han G.
    Veltman, Joris A.
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2012, 20 (05) : 490 - 497
  • [83] TDP-43 A315T mutation in familial motor neuron disease
    Gitcho, Michael A.
    Baloh, Robert H.
    Chakraverty, Sumi
    Mayo, Kevin
    Norton, Joanne B.
    Levitch, Denise
    Hatanpaa, Kimmo J.
    White, Charles L., III
    Bigio, Eileen H.
    Caselli, Richard
    Baker, Matt
    Al-Lozi, Muhammad T.
    Morris, John C.
    Pestronk, Alan
    Rademakers, Rosa
    Goate, Alison M.
    Cairns, Nigel J.
    [J]. ANNALS OF NEUROLOGY, 2008, 63 (04) : 535 - 538
  • [84] Association of the H63D polymorphism in the hemochromatosis gene with sporadic ALS
    Goodall, EF
    Greenway, MJ
    van Marion, I
    Carroll, CB
    Hardiman, O
    Morrison, KE
    [J]. NEUROLOGY, 2005, 65 (06) : 934 - 937
  • [85] Intermolecular transmission of superoxide dismutase 1 misfolding in living cells
    Grad, Leslie I.
    Guest, Will C.
    Yanai, Anat
    Pokrishevsky, Edward
    O'Neill, Megan A.
    Gibbs, Ebrima
    Semenchenko, Valentyna
    Yousefi, Masoud
    Wishart, David S.
    Plotkin, Steven S.
    Cashman, Neil R.
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2011, 108 (39) : 16398 - 16403
  • [86] Interpreting the role of de novo protein-coding mutations in neuropsychiatric disease
    Gratten, Jacob
    Visscher, Peter M.
    Mowry, Bryan J.
    Wray, Naomi R.
    [J]. NATURE GENETICS, 2013, 45 (03) : 234 - 238
  • [87] ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis
    Greenway, MJ
    Andersen, PM
    Russ, C
    Ennis, S
    Cashman, S
    Donaghy, C
    Patterson, V
    Swingler, R
    Kieran, D
    Prehn, J
    Morrison, KE
    Green, A
    Acharya, KR
    Brown, RH
    Hardiman, O
    [J]. NATURE GENETICS, 2006, 38 (04) : 411 - 413
  • [88] A novel candidate region for ALS on chromosome 14q11.2
    Greenway, MJ
    Alexander, MD
    Ennis, S
    Traynor, BJ
    Corr, B
    Frost, E
    Green, A
    Hardiman, O
    [J]. NEUROLOGY, 2004, 63 (10) : 1936 - 1938
  • [89] CGG-repeat expansion in FMR1 is not associated with amyotrophic lateral sclerosis
    Groen, Ewout J. N.
    van Rheenen, Wouter
    Koppers, Max
    van Doormaal, Perry T. C.
    Vlam, Lotte
    Diekstra, Frank P.
    Dooijes, Dennis
    Pasterkamp, R. Jeroen
    van den Berg, Leonard H.
    Veldink, Jan H.
    [J]. NEUROBIOLOGY OF AGING, 2012, 33 (08) : 1852.e1 - 1852.e3
  • [90] A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis
    Gros-Louis, F
    Larivière, R
    Gowing, G
    Laurent, S
    Camu, W
    Bouchard, JP
    Meininger, V
    Rouleau, GA
    Julien, JP
    [J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 2004, 279 (44) : 45951 - 45956
45678910111213