Toledo CR, HLI, Salgado-Araujo MM, Hernández AME, Manzo DJ

Language: Spanish
References: 15
Page: 32-37
PDF size: 652.71 Kb.

ABSTRACT

Neurodegenerative diseases are the result of a progressive death of neurons in the nervous system, mainly of those located in the brain. This review deals with the specific case of the MECP2 gene that encodes the protein with the same name: MeCP2. Mutations at this gene and, therefore, disfunction of the protein lead to a specific kind of neurodegenerative disease: the Rett Syndrome. This syndrome seems to be specific of humans and develop mainly in girls around two years of age. The disease is characterized by a regression in the development of the girl, followed by the lost of motor and cognitive functions. Furthermore, there are other accompanying misfunctions as severe gastrointestinal modifications and epileptic seizures. A major concern is the long lasting effects of this neurodegeneration, since girls die once they arrive to puberty; thus, their infant period is lived in a devastating situation. Rett syndrome has a number of responses similar to those observed in autism, hence some authors has classified it as a special kind of itself. The cause of the syndrome is the mutation at the MECP2 gene, which decreases the appropriate synthesis of the MeCP2 protein. This protein is a gene repressor, i.e., when absent several genes became activated without control, triggering the appearance of the syndrome. Still we do not know which genes are regulated by the MeCP2 protein, hence a therapeutic approach to alleviate the sickness of the girls is far from being discovered. This review has the purpose to analyze this case that served as the starting point of the project at the Universidad Veracruzana: the Mirrus Project for the Study of Development Disorder of Neurodegenerative Diseases.

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