Sobre los trastornos nutricionales en las ataxias espinocerebelosas, la enfermedad de Huntington y otras afecciones poliglutamínicas

Tania Rodríguez Graña, Luis Velázquez Pérez, Sergio Santana Porbén

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Resumen

Las ataxias espinocerebelosas (SCA de sus siglas en inglés) comprenden varias afecciones neurodegenerativas que son hereditarias con carácter autosómico dominante. Las SCAs se destacan por la gran heterogeneidad clínica, morfológica, y neurofisiológica. Las SCAs más frecuentes son las que se integran dentro de las enfermedades poliglutamínicas (poliQ): entidades que son causadas por la expansión de un triplete de citosina-adenina-guanina (CAG) en regiones codificantes de genes especificados del genoma humano. La sobreexpresión del triplete CAG resulta en la aparición de proteínas estructuralmente defectuosas.  El daño estructural se traslada a un plegamiento anormal, y con ello, la formación de agregados de proteínas dañadas. La deposición de estos agregados suele culminar en la muerte de la célula afectada. Los pacientes SCA suelen presentar pérdida involuntaria de la masa muscular esquelética (MME) asociada a la muerte neuronal propia de la ataxia, lo que afectaría la movilidad, el funcionalismo y la autonomía de los mismos. El daño muscular también puede sobrevenir debido a la acumulación tóxica de proteínas mutadas en el miocito. Sin embargo, es probable que la reducción de la MME pueda ocurrir como consecuencia de la inflamación sistémica, la resistencia aumentada a la acción periférica de la insulina, y la hipercatabolia. Estos cambios moleculares y metabólicos podrían afectar de forma independiente la evolución de la enfermedad atáxica y la respuesta al tratamiento. Se revisan los resultados de los modelos animales de estudio de las SCA, los reportes internacionales de casos, y la casuística acumulada por la autora para explorar tales hipótesis. Se explora también la presencia de estados de insulinorresistencia en las otras enfermedades poliglutamínicas.

Palabras clave

Ataxias espinocerebelosas; Enfermedades poliglutamínicas; Resistencia a la insulina; Pérdida involuntaria de peso; Inflamación

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Yamamoto A, Cremona ML, Rothman JE. Autophagy-mediated clearance of huntingtin aggregates triggered by the insulin-signaling pathway. J Cell Biol 2006;172:719-31.

Wolfrath SC, Borenstein AR, Schwartz S, Hauser RA, Sullivan KL, Zesiewicz TA. Use of nutritional supplements in Parkinson's disease patients. Mov Disord 2006;21:1098-101. http://doi:10.1002/mds.20902. Fecha de última visita: 12 de Julio del 2018.

Underwood BR, Imarisio S, Fleming A, Rose C, Krishna G, Heard P; et al. Antioxidants can inhibit basal autophagy and enhance neurodegeneration in models of polyglutamine disease. Human Mol Genet 2010;19:3413-29.

Duan W, Ross CA. Potential therapeutic targets for neurodegenerative diseases: Lessons learned from calorie restriction. Curr Drug Targets 2010;11: 1281-92.

Ilg W, Bastian AJ, Boesch S, Burciu RG, Celnik P, Claaßen J; et al. Consensus paper: Management of degenerative cerebellar disorders. The Cerebellum [London] 2014;13:248-68.

Lee MJ, Park SH, Han JH, Hong YK, Hwang S, Lee S; et al. The effects of hempseed meal intake and linoleic acid on Drosophila models of neurodegenerative diseases and hypercholesterolemia. Mol Cells 2011;31:337-42.

Puri BK, Bydder GM, Manku MS, Clarke A, Waldman AD, Beckmann CF. Reduction in cerebral atrophy associated with ethyl-eicosapentaenoic acid treatment in patients with Huntington's disease. J Int Med Res 2008;36:896-905.

Marsden J, Harris C. Cerebellar ataxia: Pathophysiology and rehabilitation. Clin Rehabil 2011;25:195-216.

Miyai I, Ito M, Hattori N, Mihara M, Hatakenaka M, Yagura H; et al. Cerebellar ataxia rehabilitation trial in degenerative cerebellar diseases. Neurorehabil Neural Repair 2012;26:515-22.

Díaz JCR, Pérez CLV, Cruz GS, Mederos LA, Gotay DA, Fernández JCG; et al. Evaluación de la restauración neurológica en pacientes con ataxia SCA2 cubana. Plasticidad Restauración Neurológica 2008;7(1-2):13-8. Disponible en: https://www.medigraphic.com/pdfs/plasticidad/prn-2008/prn081_2c.pdf. Fecha de última visita: 14 de Julio del 2018.

Hervás D, Fornés-Ferrer V, Gómez-Escribano AP, Sequedo MD, Peiró C, Millán JM, Vázquez-Manrique RP. Metformin intake associates with better cognitive function in patients with Huntington's disease. PLoS One 2017;12(6):e0179283- e0179283. Disponible en: http://doi:10.1371/journal.pone.0179283.

Fecha de última visita: 15 de Julio del 2018.

Arnoux I, Willam M, Griesche N, Krummeich J, Watari H, Offermann N; et al. Metformin reverses early cortical network dysfunction and behavior changes in Huntington's disease. eLife 2018;7:e38744-e38744. Disponible en: http://doi:10.7554/eLife.38744. Fecha de última visita: 4 de Septiembre del 2018.

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