Advance in Pathogenesis of Amyotrophic Lateral Sclerosis (review)

  • GUO Yong-qiang ,
  • LI Sen ,
  • ZHANG Hai-hong ,
  • WU Ya-min
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  • 1. State Key Laboratory of Trauma, Burns and Combined Injury, the Third Department of Research Institute of Surgery, Daping Hospital, Third Military Medical University, Chongqing 400042, China;
    2. Department of Orthopedics, Second Clinical Medical College of Lanzhou University, Lanzhou, Gansu 730030, China

Received date: 2017-01-13

  Revised date: 2017-02-13

  Online published: 2017-06-27

Abstract

Amyotrophic lateral sclerosis (ALS), including the familial and the sporadic, accounts for the most proportion of motor neuron disease. The pathogenesis of ALS covers gene mutation, oxidative stress, excitotoxicity, mitochondrial dysfunction, immune and inflammatory, and so on. With interplay and interrelation, these mechanisms, finally, caused multisystem lesion especially motor neural system.

Cite this article

GUO Yong-qiang , LI Sen , ZHANG Hai-hong , WU Ya-min . Advance in Pathogenesis of Amyotrophic Lateral Sclerosis (review)[J]. Chinese Journal of Rehabilitation Theory and Practice, 2017 , 23(6) : 685 -689 . DOI: 10.3969/j.issn.1006-9771.2017.06.014

References

[1] Zarei S, Carr K, Reiley L, et al. A comprehensive review of amyotrophic lateral sclerosis [J]. Surg Neurol Int, 2015, 6(1): 171.
[2] Kiernan MC, Vucic S, Cheah BC, et al. Amyotrophic lateral sclerosis [J]. Lancet, 2011, 377(9769): 942-955.
[3] Swinnen B, Robberecht W. The phenotypic variability of amyotrophic lateral sclerosis [J]. Nat Rev Neurol, 2014, 10(11): 661-670.
[4] Couthouis J, Raphael AR, Daneshjou R, et al. Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis [J]. PLoS Genet, 2014, 10(10): e1004704.
[5] Maruyama H, Morino H, Kawakami H. [Causative genes for amyotrophic lateral sclerosis] [J]. [in Japanese]. Brain Nerve, 2016, 68(9): 1081-1086.
[6] Trias E, Ibarburu S, Barreto-Núñez R, et al. Significance of aberrant glial cell phenotypes in pathophysiology of amyotrophic lateral sclerosis [J]. Neurosci Lett, 2016, 636: 27-31.
[7] Ayers JI, McMahon B, Gill S, et al. Relationship between mutant SOD1 maturation and inclusion formation in cell models [J]. J Neurochem, 2017, 140(1): 140-150.
[8] Prudencio M, Hart PJ, Borchelt DR, et al. Variation in aggregation propensities among ALS-associated variants of SOD1: correlation to human disease [J]. Hum Mol Genet, 2009, 18(17): 3217-3226.
[9] Chattopadhyay M, Nwadibia E, Strong CD, et al. The disulfide bond, but not zinc or dimerization, controls initiation and seeded growth in amyotrophic lateral sclerosis-linked Cu, Zn superoxide dismutase (SOD1) fibrillation [J]. J Biol Chem, 2015, 290(51): 30624-30636.
[10] Ayers JI, Fromholt SE, O'Neal VM, et al. Prion-like propagation of mutant SOD1 misfolding and motor neuron disease spread along neuroanatomical pathways [J]. Acta Neuropathol, 2016, 131(1): 103-114.
[11] Bruijn LI, Miller TM, Cleveland DW. Unraveling the mechanisms involved in motor neuron degeneration in ALS [J]. Annu Rev Neurosci, 2004, 27: 723-749.
[12] Wang I, Wu LS, Chang HY, et al. TDP-43, the signature protein of FTLD-U, is a neuronal activity-responsive factor [J]. J Neurochem, 2008, 105(3): 797-806.
[13] Gendron TF, Rademakers R, Petrucelli L. TARDBP mutation analysis in TDP-43 proteinopathies and deciphering the toxicity of mutant TDP-43 [J]. J Alzheimers Dis, 2013, 33(s1): S35-S45.
[14] Lu Y, Tang C, Zhu L, et al. The overexpression of TDP-43 protein in the neuron and oligodendrocyte cells causes the progressive motor neuron degeneration in the SOD1 G93A transgenic mouse model of amyotrophic lateral sclerosis [J]. Int J Biol Sci, 2016, 12(9): 1140-1149.
[15] Maruyama H, Kawakami H. Optineurin and amyotrophic lateral sclerosis [J]. Geriatr Gerontol Int, 2013, 13(3): 528-532.
[16] Patai R, Nógrádi B, Engelhardt JI, et al. Calcium in the pathomechanism of amyotrophic lateral sclerosis-Taking center stage? [J]. Biochem Biophys Res Commun, 2017, 483(4): 1031-1039.
[17] D'Amico E, Factor-Litvak P, Santella RM, et al. Clinical perspective on oxidative stress in sporadic amyotrophic lateral sclerosis [J]. Free Radical Bio Med, 2013, 65: 509-527.
[18] Barber SC, Shaw PJ. Oxidative stress in ALS: key role in motor neuron injury and therapeutic target [J]. Free Radical Biol Med, 2010, 48(5): 629-641.
[19] DeCoteau W, Heckman KL, Estevez AY, et al. Cerium oxide nanoparticles with antioxidant properties ameliorate strength and prolong life in mouse model of amyotrophic lateral sclerosis [J]. Nanomedicine, 2016, 12(8): 2311-2320.
[20] Melachroinou K, Xilouri M, Emmanouilidou E, et al. Deregulation of calcium homeostasis mediates secreted α-synuclein-induced neurotoxicity [J]. Neurobiol Aging, 2013, 34(12): 2853-2865.
[21] Kiselyov K, Muallem S. ROS and intracellular ion channels [J]. Cell Calcium, 2016, 60(2): 108-114.
[22] Wuolikainen A, Moritz T, Marklund SL, et al. Disease-related changes in the cerebrospinal fluid metabolome in amyotrophic lateral sclerosis detected by GC/TOFMS [J]. PLoS One, 2011, 6(4): e17947.
[23] Bonifacino T, Musazzi L, Milanese M, et al. Altered mechanisms underlying the abnormal glutamate release in amyotrophic lateral sclerosis at a pre-symptomatic stage of the disease [J]. Neurobiol Dis, 2016, 95: 122-133.
[24] Milanese M, Zappettini S, Onofri F, et al. Abnormal exocytotic release of glutamate in a mouse model of amyotrophic lateral sclerosis [J]. J Neurochem, 2011, 116(6): 1028-1042.
[25] Tani H, Dulla CG, Farzampour Z, et al. A local glutamate-glutamine cycle sustains synaptic excitatory transmitter release [J]. Neuron, 2014, 81(4): 888-900.
[26] Vucic S, Rothstein JD, Kiernan MC. Advances in treating amyotrophic lateral sclerosis: insights from pathophysiological studies [J]. Trends Neurosci, 2014, 37(8): 433-442.
[27] Rueda CB, Llorente-Folch I, Traba J, et al. Glutamate excitotoxicity and Ca 2+ -regulation of respiration: Role of the Ca 2+ activated mitochondrial transporters (CaMCs) [J]. Biochim Biophys Acta, 2016, 1857(8): 1158-1166.
[28] Magrané J, Cortez C, Gan WB, et al. Abnormal mitochondrial transport and morphology are common pathological denominators in SOD1 and TDP43 ALS mouse models [J]. Hum Mol Genet, 2014, 23(6): 1413-1424.
[29] Salehi M, Nikkhah M, Ghasemi A, et al. Mitochondrial membrane disruption by aggregation products of ALS-causing superoxide dismutase-1 mutants [J]. Int J Biol Macromol, 2015, 75: 290-297.
[30] Israelson A, Arbel N, Da Cruz S, et al. Misfolded mutant SOD1 directly inhibits VDAC1 conductance in a mouse model of inherited ALS [J]. Neuron, 2010, 67(4): 575-587.
[31] Sasaki S, Iwata M. Mitochondrial alterations in the spinal cord of patients with sporadic amyotrophic lateral sclerosis [J]. J Neuropathol Exp Neurol, 2007, 66(1): 10-16.
[32] Liu W, Yamashita T, Tian F, et al. Mitochondrial fusion and fission proteins expression dynamically change in a murine model of amyotrophic lateral sclerosis [J]. Curr Neurovasc Res, 2013, 10(3): 222-230.
[33] Palomo GM, Manfredi G. Exploring new pathways of neurodegeneration in ALS: the role of mitochondria quality control [J]. Brain Res, 2015, 1607: 36-46.
[34] Cozzolino M, Carrì MT. Mitochondrial dysfunction in ALS [J]. Prog Neurobiol, 2012, 97(2): 54-66.
[35] Meininger V. ALS, what new 144 years after Charcot? [J]. Arch Ital Biol, 2011, 149(1): 29-37.
[36] Farina C, Aloisi F, Meinl E. Astrocytes are active players in cerebral innate immunity [J]. Trends Immunol, 2007, 28(3): 138-145.
[37] Zürcher NR, Loggia ML, Lawson R, et al. Increased in vivo glial activation in patients with amyotrophic lateral sclerosis: Assessed with [11 C]-PBR28 [J]. Neuroimage Clin, 2015, 7: 409-414.
[38] Wormser U, Mandrioli J, Vinceti M, et al. Reduced levels of alpha-1-antitrypsin in cerebrospinal fluid of amyotrophic lateral sclerosis patients: a novel approach for a potential treatment [J]. J Neuroinflammation, 2016, 13(1): 1-5.
[39] Lu CH, Allen K, Oei F, et al. Systemic inflammatory response and neuromuscular involvement in amyotrophic lateral sclerosis [J]. Neurol Neuroimmunol Neuroinflamm, 2016, 3(4): e244.
[40] Dahlke C, Saberi D, Ott B, et al. Inflammation and neuronal death in the motor cortex of the wobbler mouse, an ALS animal model [J]. J Neuroinflammation, 2015, 12(1): 1-11.
[41] May C, Nordhoff E, Casjens S, et al. Highly immunoreactive IgG antibodies directed against a set of twenty human proteins in the sera of patients with amyotrophic lateral sclerosis identified by protein array [J]. PLoS One, 2014, 9(2): e89596.
[42] Pagani MR, Gonzalez LE, Uchitel OD. Autoimmunity in amyotrophic lateral sclerosis: past and present [J]. Neurol Res Int, 2011, 2011: 497080.
[43] Nardo G, Trolese MC, de Vito G, et al. Immune response in peripheral axons delays disease progression in SOD1 G93A mice [J]. J Neuroinflammation, 2016, 13(1): 261.
[44] Orrell RW, Lane RJM, Ross M. A systematic review of antioxidant treatment for amyotrophic lateral sclerosis/motor neuron disease [J]. Amyotroph Lateral Scler, 2009, 9(4): 195-211.
[45] Glass JD, Hertzberg VS, Boulis NM, et al. Transplantation of spinal cord-derived neural stem cells for ALS: Analysis of phase 1 and 2 trials [J]. Neurology, 2016, 87(4): 392-400.
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