Ciliopatías: bases moleculares y celulares en enfermedades del sistema nervioso

Darian Francis Zubia, Zulema Ramírez Carmenate, Lucía González Núñez

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Durante mucho tiempo se descartó la importancia estructural y funcional del cilio primario. El avance tecnológico a inicios del presente siglo ha propiciado la comprensión de su relevancia. Debido a su amplia distribución celular, su papel emergente en la transducción de importantes vías de señalización y sus disfunciones, se ha visto implicada en un amplio espectro de enfermedades humanas denominadas ciliopatías, en la que son hallazgos comunes los defectos neurológicos. Reconocer cómo están involucrados los genes asociados a los cilios en diversos síndromes neurológicos ha mejorado el entendimiento de las funciones del cilio primario en el SNC. De acuerdo con lo que se viene diciendo, luego de la revisión de 61 referencias bibliográficas, este análisis pretende describir la relación molecular y morfofuncional de las ciliopatías en el organismo. El conocimiento del cilio primario y del desempeño que se le ha adscrito, permitirá la elucidación de un número importante de enfermedades genéticas asociadas a su disfunción


During a lot of time, the structural and functional importance of the primary cilium was discarded. The technological advance to beginnings of the present century it has propitiated the understanding of their relevance. Due to their cellular wide distribution, their emergent paper in the transduction of important signaling roads and their dysfunctions, it has been implied in a wide spectrum of human illnesses denominated cilium sicks, in which are common discoveries the neurological defects. To recognize how the genes associated to the ciliums are involved in diverse neurological syndromes it has improved the understanding of the functions of the primary cilium in Nervous Central System (NCS). In accordance with what one comes saying, after the revision of 61 bibliographical references, this analysis seeks to describe the molecular relationship and morfofuncional of the cilium sicks in the organism. The knowledge of the primary cilium and of the acting that has been attributed, it will allow the elucidation of an important number of genetic illnesses associated to their dysfunction

Palabras clave

enfermedades del sistema nervioso; sistema nervioso; obesidad; nervous system diseases; nervous system; obesity


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