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• W2598609818 abstract "La enfermedad de Alexander (AxD) es una leucodistrofia. Su base patológica, junto a la pérdida de mielina, es la aparición de los cuerpos de Rosenthal, que son inclusiones citoplasmáticas en células astrocitarias. Mutaciones en el gen que codifica la GFAP se han identificado como una base genética para AxD. Sin embargo, no se conoce el mecanismo por el cual estas variantes producen la enfermedad. La hipótesis más extendida es que AxD se desarrolla por un mecanismo por ganancia de función debido al incremento de GFAP. Sin embargo, este mecanismo no explica la pérdida mielínica, dado que los modelos experimentales que expresan GFAP normal o mutada no generan alteración mielínica. En la presente revisión se analizan otras posibilidades que permitan justificar dicha alteración, como son alteraciones epigenéticas, inflamatorias, la existencia de células NG2 (+)-GFAP (+) o cambios postraslacionales sobre la GFAP al margen de la mayor expresión. Las diferentes hipótesis analizadas pueden explicar la alteración de la mielina que aparece en los pacientes y que pueden presentarse asociadas y abren la posibilidad de plantear terapéuticas basadas en estos mecanismos. Alexander disease (AxD) is a type of leukodystrophy. Its pathological basis, along with myelin loss, is the appearance of Rosenthal bodies, which are cytoplasmic inclusions in astrocytes. Mutations in the gene coding for GFAP have been identified as a genetic basis for AxD. However, the mechanism by which these variants produce the disease is not understood. The most widespread hypothesis is that AxD develops when a gain of function mutation causes an increase in GFAP. However, this mechanism does not explain myelin loss, given that experimental models in which GFAP expression is normal or mutated do not exhibit myelin disorders. This review analyses other possibilities that may explain this alteration, such as epigenetic or inflammatory alterations, presence of NG2 (+) – GFAP (+) cells, or post-translational modifications in GFAP that are unrelated to increased expression. The different hypotheses analysed here may explain the myelin alteration affecting these patients, and multiple mechanisms may coexist. These theories raise the possibility of designing therapies based on these mechanisms." @default.
• W2598609818 created "2017-04-07" @default.
• W2598609818 creator A5014458334 @default.
• W2598609818 creator A5038500570 @default.
• W2598609818 creator A5059909343 @default.
• W2598609818 creator A5071481860 @default.
• W2598609818 date "2018-10-01" @default.
• W2598609818 modified "2023-10-01" @default.
• W2598609818 title "La alteración de la mielina en la enfermedad de Alexander" @default.
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• W2598609818 doi "https://doi.org/10.1016/j.nrl.2017.01.019" @default.
• W2598609818 hasPublicationYear "2018" @default.
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