2018, Número 5
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Rev Clin Esc Med 2018; 8 (5)
Neostigmina en el tratamiento de la Distrofia Muscular Progresiva: Estudio de 6 pacientes, 4 con seguimiento de 13 años
Álvarez RM, Álvarez AAM, Barrantes JM
Idioma: Español
Referencias bibliográficas: 52
Paginas: 1-22
Archivo PDF: 663.20 Kb.
RESUMEN
Estudio realizado durante 13 años, en seis pacientes con
distrofia muscular. Dos de ellos asociados con neuropatía
y cuatro con nervios sanos. El objetivo de la investigación
es demostrar el uso de la neostigmina en el tratamiento
de la distrofia muscular progresiva, como competidor
reactivador y facilitador de la glicolización de los receptores
alfa distroglicano. Los 6 pacientes iniciaron con neostigmina
de 3 a 5 tabletas al día. Con este tratamiento se mostró un
aumento de la fuerza muscular en un mes. Cuatro de los
pacientes experimentaron un aumento de fuerza muscular
que se mantuvo por 13 años con una mejor calidad de vida
e iguales oportunidades que un individuo saludable. La
fisiopatología de la distrofia muscular progresiva es el bloqueo
genético a la glicolización de los receptos alfa distroglicano
que produce debilidad muscular. La neostigmina es utilizada
como inhibidor de la acetilcolinesterasa en el tratamiento
de la Miastenia Gravis (acción indirecta). La acción directa
es competidor y desbloqueador del receptor, esto facilita la
glicolización, aumentando la fuerza muscular.
REFERENCIAS (EN ESTE ARTÍCULO)
Holt K.H. Crosbie R. H. Venzke, D.P Campbell K.P. Lett.Biosynthesis of dystroglycan: processing of a precursor propeptide. FEBS 18 de febrero de 2000, 468(1):79-83.
Fernández-Mayoralas M San Antonio-Arce V Campos-Castelló J. Diagnóstico precoz de la distrofia muscular de Duchenne mediante screening neonatal no selectivo. REV NEUROL. 2002, 35 -36.
Yoshida Moriguchi T Campbell, K.P 2 Matriglycan a novel polysaccharide that links dystroglycan to the basement membrane. Glycobiology, 2015 jul;, 25(7): 702-713.
Saunier, M Bönnemann C.G. Durbeej M. Allamand, V 212th ENMC International Workshop: Animal models of congenital muscular dystrophies, Naarden, The Netherlands, 29–31 May 2015, on Behalf of the CMD Animal Model Consortium neuromuscul Diosord. 2016 Mar: 26(3): 252-259.
Cohn R. D Campbell K P.Molecular basis of muscular dystrophies. Muscle Nerve. 2000, october; 23 (10): 1456-1471.
Lévi S Grady R M Henry,M. D.;Campbell, K.P et al Sanes J R. Craig, A.M. Dystroglycan is selectively associated with inhibitory GABAergic synapses butis dispensable for their differentiation J Neurosci. 2002 Jun 1; 22(11):4274-4285.
Michele D E. Campbell K. P. Dystrophinglycoprotein complex: post-translational processing and dystroglycan function. J Biol Chem. 2003 May 2; 278(18):15457-15460.
Barresi R Campbell K P. Dystroglycan: from biosynthesis to pathogenesis of human disease. Cell Sci; 119 2006, January; 15, J: 199-207
Rinsho, S Pathomechanism and therapeutic strategy of Fukuyama congenital muscular dystrophy and related disorders. Review Japanese 2009 Nov; 49(11); 859-862.
Cohn R. D Campbell K. P Molecular basis of muscular dystrophies. Muscle Nerve 2000 October; 23 (10):1456-1471.
Rojek JM, Spiropoulou CF, Campbell KP, Kunz S. Old World and clade C New World arenaviruses mimic the molecular mechanism of receptor recognition used by alpha-dystroglycan’s hostderived ligands. Virol. J. 2007 Jun; 81(11): 5685-5695.
Live D Wells L Boons G J.Dissecting the molecular basis of the role of the O-mannosylation pathway in disease: α-dystroglyca and forms of muscular dystrophy. Chembiochem 2013, dec 16; 14(18): 2392-2402. .
Deyst, K Bowe, M Leszyk J Fallon J.The α-Dystroglycan-β-Dystroglycan Complex Membrane Organization and Relationship To An Agrin Receptor J Biol Chem. 27 de October 1995; 270 (43):25956- 25959.
Schachter H Vajsar J Zhang W.The role of defective glycosylation in congenital muscular dystrophy. Glycoconj J. 2004; 20(5):291-300.
Leschziner AMoukhles H.Lindenbaum M et al. Nural regulation of alpha-dystroglycan biosynthesis and glycosylation in skeletal muscle. Neurochem, 2000; Jan, 74 (1): 70-78
Teijeira-Bautista,S García-García D Teijeiro- Ferreira A Fernández Hojas R. Fernández-Rodríguez J.M. Navarro-Fdez, C. Distrofinopatías, distrofia muscular congénita y distrofias de cinturas: clasificación actualizada. Rev. Neurol,1998; 26 (154): 1021-1026
Barresi R Campbell K. Dystroglycan from biosynthesis to pathogenesis of human disease. J Cell Sci. 2006 Jan 15; 119(Pt. 2):199-207.
Grady R. Zhou H Cunningham J M Henry M. D Campbell K.P Sanes J R. Maturation and maintenance of the neuromuscular synapse: genetic evidence for roles of the dystrophin--glycoprotein complex. Neuron. 2000 Feb; 25(2): 279-293
Durbeej M Campbell, K P. Biochemical Characterization of the Epithelial Dystroglycan Complex. Journal of Biological Chemistry, 1999 September 10; Vol: 274, No. 37, 26609–26616.
Williamson R.A. Henry M D. Daniels, K. J .et al. Dystroglycan is essential for early embryonic development: disruption of Reichert’s membrane in Dag1-null mice. Hum Mol Genet. 1997 Jun;6(6):831-41.
Roig M Fargas Gratacós M Roma J. Papel de la matriz extracelular en la distrofia muscular ligada al cromosoma X: estudio inmunohistoquímico . Rev Neurol. 1998; 26 (154): 895-904¡
Matsumura K Campbell, K. P Deficiency of dystrophin-associated proteins: a common mechanism leading to muscle cell necrosis in severe childhood muscular dystrophies. Neuromuscul Disord. 1993 Mar; 3(2): 109-118.
Wang R Urso M L Zambraski E J Rader E.P Campbell, K.P Liang B T. Adenosine A(3) receptor stimulation induces protection of skeletal muscle from eccentric exercise-mediated injury. .Am J Physiol Regul Integr Comp Physiol. 2010 Jul; 299(1): 259-267.
Montejo Y. Técnicas diagnósticas descritas en el estudio de la distrofia muscular de Duchenne/ Becker, Rev. Neurol 2002; 34 (3): 278-281
Williamson R A Henry M.D Daniels K J et.al. Dystroglycan is essential for early embryonic development: disruption of Reichert’s membrane in Dag1-null mice. Hum Mol Genet. 1997 Jun; 6(6):831-41.
Shinkeigaku R Pathomechanism and therapeutic strategy of Fukuyama congenital muscular dystrophy and related disorders]. Review. Japanese 2009 Nov; 49(11):859-862.
Matsumura K Ohlendieck K Ionasescu,V et al. The role of the dystrophin-glycoprotein complex in the molecular pathogenesis of muscular dystrophies.. Puromuscul Disord. 1993 Sep-Nov; 3(5-6):533-535.
Beedle A M Turner A J Saito Y et al Mouse fukutin deletion impairs dystroglycan processing and recapitulates muscular dystrophy. J Clin Invest. 2012 Sep 4; 122(9):3330-334.
A Jimenez Mallebrera C1 Torelli, S. Feng, L et al. Comparative study of α-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of α-dystroglycan does not consistently correlate with clinical severity. Brain Pathol de octubre de 2009, 19 (4): 596-611.
Crosbie R H Barresi, R Campbell K.P. Loss of sarcolemma nNOS in sarcoglycan- deficient muscle. FASEB J. 2002 Nov; 16(13):1786-1791.
Michele D E. Kabaeva, Z Davis S L Campbell K. P. Dystroglycan matrix receptor function in cardiac myocytes is important for limiting activityinduced myocardial damage. Circ Res. 2009 Nov 6; 105(10):984-993.
Weiss R M Kerber R.E Jones J.K.Stephan C M et al. Exercise-induced left ventricular systolic dysfunction in women heterozygous for dystrophinopathy. J Am Soc Echocardiogr. 2010 Aug; 23(8):848-853.
Kunz S Sevilla N McGavern D.B Campbell K P Oldstone M.B. Molecular analysis of the interaction of LCMV with its cellular receptor [alpha]-dystroglycan. J Cell Biol. 2001 Oct 15; 155(2):301-1034.
Kunz S Sevilla, N McGavern D.B Campbell K P Oldstone M B. Molecular analysis of the interaction of LCMV with its cellular receptor [alpha]- dystroglycan, J Cell Biol. 2001 Oct 15; 155(2):301-310.
Jillian M Rojek K Campbell P Michael B.A Oldstone Kunz, S. Old World Arenavirus Infection Interferes with the Expression of Functional α-Dystroglycan in the Host Cell. Mol Biol Cell. 2007 Nov; 18(11):4493-4507.
Li-Ying L. Walsh K B. Vartanian A R. et al. Functional Glycosylation of Dystroglycan Is Crucial for Thymocyte Development in the Mouse. PLOS Medicine Online 2010 March 29. doi: 10.1371/ journal.pone.0009915
Kanagawa M Saito F Kunz S et al. Molecular recognition by LARGE is essential for expression of functional dystroglycan.. Cell. 2004 Jun 25; 117(7):953-964.
Littter Manuel. Anticolinesterasas. Farmacología Experimental y Clínica 1979; Quinta Edición Editorial Ateneo: Pág. 559-564.
Moreno Valdés. Evaluación de la calidad de vida de los niños con distrofia muscular progresiva de Duchenne E. REV NEUROL 2007; 45 (2): 81-87 611.
Kunz S Sevilla N Dorian B Campbell K. & Michel B.A Molecular analysis of the interaction of LCMV with its cellurar receptor dystroglycan. J Cell Biol. 2001 Oct 15; 155(2):301-310
Campbell and M.B Oldstone. Identification the alfa- dystroglycan as a receptor for limphocytic choriomeningitis virus and Lassa feber virus. Science. 1998 Dec 11; 282(5396):2079-2081.
Robbins, S., Patología Estructural y Funcional Editorial Interamericana, 1975; 1 edición: Pág., 1371.
Matsumura K Campbell KP. Deficiency of dystrophin-associated proteins: a common mechanism leading to muscle cell necrosis in severe childhood muscular dystrophies. Neuromuscul Disord. 1993 Mar;3(2):109-118.
Durbeej M Henry M D Ferletta M Campbell K P Ekblom P. Distribution of dystroglycan in normal adult mouse tissues. J Histochem Cytochem. 1998 Apr; 46(4):449-457
teven D Kahl K.P Campbell Steven D Kahl, Association of dystrophin and an integral membrane glycoprotein Nature. 1989 Mar 16;338(6212):259-262.
Sugita S Saito F Tang J Satz J Campbell K Südhof. A stoichiometric complex of neurexins and dystroglycan in brain. J Cell Biol. 2001 Jul 23; 154(2):435-445.
Giménez C. Composición y estructura de la membrana neuronal: bases moleculares de su fisiología y patología, Revista de Neurología. 1998; 26(150): 232-239.
Moore S A Saito F Chen J et al. Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy. Nature 2002 Jul 25; 418(6896):422-425
Willer T Inamori K Venzke D et al. The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated α-dystroglycan functional glycosylation. eLife. 2014; Published online 2014 Oct 3. doi: 10.7554/eLife.03941
Goodman & Gilman Manual de Farmacología y Terapéutica. Editores Laurence Brunton, lain Buxton, 2008; capítulo 8: página: 129
Jiménez-Mallebrera C Torelli S Feng L et al. Comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity. Brain Pathol. 2009 Oct; 19(4): 596–611.
52 . Apel ED Roberds S Campbell KP Merlie JP. Rapsyn may function as a link between the acetylcholine receptor and the agrin-binding dystrophin-associated glycoprotein complex. Neuron. 1995 Jul; 15(1):115-126.