medigraphic.com
Academia Mexicana de Neurología, A.C.

2015, Número 1

<< Anterior Siguiente >>

Rev Mex Neuroci 2015; 16 (1)


Plegamiento Anormal de Proteínas y Neurodegeneración

Rodríguez-Leyva I, Calderón-Garcidueñas AL, Jiménez-Capdeville ME

Idioma: Español
Referencias bibliográficas: 56
Paginas: 51-72
Archivo PDF: 361.81 Kb.


RESUMEN

De alguna manera todas las enfermedades neurodegenerativas son proteinopatías. Aunque el principal factor de riesgo para padecerlas es la edad, intervienen en su presentación tanto la genética como factores ambientales (trauma, pesticidas, herbicidas), teniendo como mediador a la epigenética. Su complejidad estriba en que abarcan un abanico de posibilidades en su expresión; desde ser puramente genéticas (como la enfermedad de Huntington), hasta las totalmente dependientes del ambiente (como la demencia pugilística). En su semiología se manifiestan con una gama de fenotipos, que en ocasiones nos llevan a confundir diagnósticos (la Enfermedad de Parkinson con la Parálisis Supranuclear Progresiva, por ejemplo). Algunos autores proponen que enfermedades que hasta ahora consideramos diferentes, puedan corresponder a una misma patología (Enfermedad de Parkinson y Demencia por Cuerpos de Lewy). Su fisiopatología es semejante a nivel celular, la transformación de una proteína útil y funcional en una mal conformada, insoluble, tóxica, que lleva finalmente a la disfunción y muerte celular, afectando estructuras corticales, subcorticales, núcleos de la base, tallo cerebral, médula espinal e incluso sistema nervioso periférico, y aún otros tejidos lo que permite explicar las manifestaciones que las caracterizan.


REFERENCIAS (EN ESTE ARTÍCULO)

  1. Hindle JV. Ageing, neurodegeneration and Parkinson’s disease. Age Ageing 2010; 39: 156-61

  2. Finch CE. Evolution of the human lifespan and diseases of aging: Roles of infection, inflammation, and nutrition. Proc Natl Acad Sci U.S.A. 2010; 107: 1718- 24

  3. Bertram L Tanzi RE. The genetic epidemiology of neurodegenerative disease. J Clin Invest 2005; 115: 1449-57

  4. Brown RC, Lockwood AH and Sonawane BR. Neurodegenerative diseases: an overview of environmental risk factors. Environ Health Perspect 2005; 113: 1250-56

  5. Nussbaum RL, Christopher CE. Alzheimer’s disease and Parkinson’s disease. N Engl J Med 2003; 348: 1356-64

  6. 6. Moore RA, Taubner LM, Priola SA. Prion protein misfolding and disease. Curr Opin Struct Biol 2009; 19:14-22

  7. Kretzschmar H, Tatzelt J. Prion disease: a tale of folds and strains. Brain Pathol. 2013; 23: 321-32

  8. Michel G, Clavaguera F, Tolnay M. The propagation of prion-like protein inclusions in neurodegenerative diseases. Trends Neurosci 2010; 33: 317- 25

  9. Lee SJ, Lim HS, Masliah E, Lee HJ. Protein aggregate spreading in neurodegenerative diseases: problems and perspectives. Neurosci Res 2011; 70: 339-48

  10. Vanderweyde T, Yu H, Varnum M, Liu-Yesucevitz L, Citro A, Ikezu T, Duff K, Wolozin B. Contrasting pathology of the stress granule proteins TIA-1 and G3BP in tauopathies. J. Neurosci 2012; 32: 8270-83

  11. Bentmann E, Haass C, Dormann D. Stress granules in neurodegeneration--lessons learnt from TAR DNA binding protein of 43 kDa and fused in sarcoma. FEBS J. 2013; 280: 4348- 70

  12. 12. Gibb WR, Lees AJ. The relevance of the Lewy body to the pathogenesis of idiopathic Parkinson’s disease. J Neurol, Neurosurg Psychiatry 1988; 51: 745-52

  13. 13. Pimplikar SW, Nixon RA, Robakis NK, Shen J, Tsai LH. Amyloid-independent mechanisms in Alzheimer’s disease pathogenesis.J Neurosci 2010; 30: 14946-54

  14. Andreadis A. Tau splicing and the intricacies of dementia. J Cell Physiol 2012; 227: 1220-25

  15. Spillantini MG, Goedert M. Tau pathology and neurodegeneration. Lancet Neurol 2013; 12: 609-22

  16. Stieler JT, Bullmann T, Kohl F, Toien O, Bruckner MK, Hartig W, Barnes BM, Arendt T. The physiological link between metabolic rate depression and tau phosphorylation in mammalian hibernation. PLoS. One. 2011; 6: e14530

  17. Braak H, Del TK. Where, when, and in what form does sporadic Alzheimer’s disease begin? Curr. Opin. Neurol. 2012; 25: 708-14

  18. Goedert M, Spillantini MG, Jakes R, Rutherford D, Crowther RA. Multiple isoforms of human microtubule-associated protein tau: sequences and localization in neurofibrillary tangles of Alzheimer’s disease. Neuron 1989; 3: 519-26

  19. Goedert M, Jakes R. Expression of separate isoforms of human tau protein: correlation with the tau pattern in brain and effects on tubulin polymerization. EMBO J. 1990; 9: 4225-30

  20. Sultan A, Nesslany F, Violet M, Begard S, Loyens A, Talahari S, Mansuroglu Z, Marzin D, Sergeant N, Humez S, Colin M, Bonnefoy E, Buee L, Galas MC. Nuclear tau, a key player in neuronal DNA protection. J Biol Chem 2011; 286: 4566-75

  21. Sjoberg MK, Shestakova E, Mansuroglu Z, Maccioni RB,Bonnefoy E. Tau protein binds to pericentromeric DNA: a putative role for nuclear tau in nucleolar organization. J Cell Sci. 2006; 119: 2025-34

  22. Kalia LV, Kalia SK, McLean PJ, Lozano AM, Lang AE. α-Synuclein oligomers and clinical implications for Parkinson disease. Ann Neurol 2013; 73: 155-69

  23. Ross CA, Poirier MA. Protein aggregation and neurodegenerative disease. Nat Med 2004; S10-17

  24. Obi K, Akiyama H, Kondo H, Shimomura Y, Hasegawa M, Iwatsubo T, Mizuno Y, Mochizuki H. Relationship of phosphorylated α-synuclein and tau accumulation to Aβ deposition in the cerebral cortex of dementia with Lewy bodies. Exp Neurol 2008; 210: 409-20

  25. Waxman EA, Giasson BI. Induction of intracellular tau aggregation is promoted by α-synuclein seeds and provides novel insights into the hyperphosphorylation of tau. J Neurosci 2011; 31: 7604-18

  26. Farrer M, Gwinn-Hardy K, Hutton M, Hardy J. The genetics of disorders with synuclein pathology and parkinsonism. Hum Mol Genet 1999; 8: 1901-5

  27. Lantos PL, Papp MI. Cellular pathology of multiple system atrophy: a review. J Neurol Neurosurg Psychiatry. 1994;57: 129-33

  28. Wenning GK, Stefanova N, Jellinger KA, Poewe W, Schlossmacher MG. Multiple system atrophy: a primary oligodendrogliopathy. Ann Neurol 2008; 64: 239-46

  29. Kuzdas-Wood D, Stefanova N, Jellinger KA, Seppi K, Schlossmacher MG, Poewe W, Wenning GK. Towards translational therapies for multiple system atrophy. Prog Neurobiol. 2014; 118:19-35.

  30. Sieben A, Langenhove TV, Engelborghs S, Martin JJ, Boon P, Cras P, De Deyn PP, Santens P, Van Broeckhoven C. Cruts M. The genetics and neuropathology of frontotemporal lobar degeneration. Acta Neuropathol 2012; 124: 353-72

  31. Clarke G, Collins RA, Leavitt BR, Andrews DF, Hayden MR, Lumsden CJ, McInnes RR A one-hit model of cell death in inherited neuronal degenerations. Nature 2000; 406: 195-9

  32. Kaltenbach LS, Romero E, Becklin RR, Chettier R, Bell R, Phansalkar A, Strand A, Torcassi C, Savage J, Hurlburt A, Cha GH, Ukani L, Chepanoske CL, Zhen Y, Sahasrabudhe S, Olson J, Kurschner C, Ellerby LM, Peltier JM, Botas J, Hughes RE.Huntingtin interacting proteins are genetic modifiers of neurodegeneration. PLoS Genet 2007; 3: e82

  33. Mollenhauer B, Förstl H, Deuschl G, Storch A, Oertel W, Trenkwalder C et al. Lewy body and parkinsonian dementia: common, but often misdiagnosed conditions. Deutsch Ärztebl Int 2010; 107: 684-91

  34. Sanjo N. Review of basic knowledge, surveillance and infectious control of prion disease. RinshoShinkeigaku. 2013; 53:1243-5

  35. Levenga J, Krishnamurthy P, Rajamohamedsait H, Wong H, Franke TF, Cain P, Sigurdsson EM, Hoeffer CA. Tau pathology induces loss of GABAergic interneurons leading to altered synaptic plasticity and behavioral impairments. Acta Neuropathol Commun. 2013;1:34-40

  36. Kar K, Arduini I, Drombosky KW, van der Wel PC, Wetzel R. D-polyglutamine amyloid recruits L-polyglutamine monomers and kills cells. J Mol Biol. 2014; 426:816-29

  37. Rabinovici, Gil D., and Bruce L. Miller. Frontotemporal lobar degeneration. CNS Drugs 2010; 24: 375-98

  38. Bekris LM, Mata IF, Zabetian CP. The genetics of Parkinson disease. 2010; 23: 228-42

  39. Berg D, Lang AE, Postuma RB, Maetzler W, Deuschl G, Gasser T, Siderowf A, Schapira AH, Oertel W, Obeso JA, Olanow CW, Poewe W, Stern M. Changing the research criteria for the diagnosis of Parkinson’s disease: obstacles and opportunities. Lancet Neurol. 2013; 12: 514-24

  40. Jack CR Jr, Albert MS, Knopman DS, McKhann GM, Sperling RA, Carrillo MC, Thies B, Phelps CH. Introduction to the recommendations from the National Institute on Aging-Alzheimer’s Association workgroups on diagnostic guidelines for Alzheimer’s disease. Alzheimers Dement. 2011; 7:257-62

  41. Dubois B, Feldman HH, Jacova C, Dekosky ST, Barberger-Gateau P, Cummings J, Delacourte A, Galasko D, Gauthier S, Jicha G, Meguro K, O’brien J, Pasquier F, Robert P, Rossor M, Salloway S, Stern Y, Visser PJ, Scheltens P. Research criteria for the diagnosis of Alzheimer’s disease: revising the NINCDS–ADRDA criteria. Lancet Neurol 2007; 6: 734-46

  42. Battens K, Sleegers K, Van Broeckhoven C. Genetic insignts in Alzheimer´s Disease. Lancet Neurol 2013; 12: 92-104

  43. Hyman BT. Down syndrome and Alzheimer disease. Prog Clin Biol Res. 1992; 379:123-42

  44. Taher N, McKenzie C, Garrett R, Baker M, Fox N, Isaacs GD. Amyloid-β Alters the DNA Methylation Status of Cell-fate Genes in an Alzheimer’s Disease Model. J Alzheimers Dis. 2014;38:831-44.

  45. Vanderweyde T, Yu H, Varnum M, Liu-Yesucevitz L, Citro A, Ikezu T, Duff K, Wolozin B. Contrasting pathology of the stress granule proteins TIA-1 and G3BP in tauopathies.J Neurosci. 2012; 32:8270- 83

  46. Alagiakrishnan K, Gill SS, Fagarasanu A. Genetics and epigenetics of Alzheimer’s disease. Postgrad Med J 2012; 88: 522-29

  47. Wolozin B. Regulated protein aggregation: stress granules and neurodegeneration. Mol Neurodegener 2012; 7: 56

  48. Pan T, Zhu J, Hwu WJ, JankovicJ. The role of alpha-synuclein in melanin synthesis in melanoma and dopaminergic neuronal cells. PLoSOne. 2012;7:e45183

  49. De Chiara G, Marcocci ME, Sgarbanti R, Civitelli L, Ripoli C, Piacentini R, Garaci E, Grassi C, Palamara AT. Infectious agents and neuro-degeneration. Mol Neurobiol 2012; 46: 614-38

  50. Dale RC, Webster R, Gill D. Contemporary encephalitis lethargica presenting with agitated catatonia, stereotypy, and dystonia-parkinsonism. Mov Disord. 2007;22:2281-4

  51. Makrantonaki E, Brink TC, Zampeli V, Elewa RM, Mlody B, Hossini AM, Hermes B, Krause U, Knolle J, Abdallah M, Adjaye J, Zouboulis CC. Identification of biomarkers of human skin ageing in both genders. Wnt signalling - a label of skin ageing? PLoS One. 2012;7:e50393

  52. Michell A, Luheshi LM, Barker RA. Skin and platelet alpha-synuclein as peripheral biomarkers of Parkinson’s disease. Neurosci lett 2005; 381: 294-8

  53. Rodríguez-Leyva I, Calderón-Garcidueñas AL, Jiménez-Capdeville ME, Rentería-Palomo A, Hernández-Rodríguez HG, Valdés-Rodríguez R., Fuentes-Ahumada C, Torres-Alvarez B, Sepúlveda- Saavedra J, Soto-Domínguez A, Santoyo ME, Rodríguez_Moreno JI, Castanedo-Cázares JP. α-Synuclein inclusions in the skin of Parkinson´s disease and parkinsonism. Ann. Clin. Traslational. Neurol. 2014; 7: 471- 78

  54. Kim C, Ho DH, Suk JE, You S, Michael S, Kang J, Joong LS, Masliah E, Hwang D, Lee HJ, Lee SJ. Neuron-released oligomeric alpha-synuclein is an endogenous agonist of TLR2 for paracrine activation of microglia. Nat Commun. 2013; 4:1562

  55. Bae EJ, Lee HJ, Rockenstein E, Ho DH, Park EB, Yang NY, Desplats P, Masliah E, Lee SJ. Antibodyaided clearance of extracellular alpha-synuclein prevents cell-to-cell aggregate transmission. J. Neurosci 2012; 32: 13454-69

  56. Yanamandra K, Kfoury N, Jiang H, Mahan TE, Ma S, Maloney SE, Wozniak DF, Diamond MI, Holtzman DM. Anti-Tau antibodies that block tau aggregate seeding in vitro markedly decrease pathology and improve cognition In Vivo. Neuron 2013; 80: 402-14




2020     |     www.medigraphic.com