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Researchers investigate how mutation of MECP2 gene, the main cause of Rett syndrome, interferes with neuronal maturation
- Marketing and Communication Service
- Scientific Culture and Innovation Unit
- December 17th, 2025
(From left to right). Enrique Lanuza, Vicente Herranz, Carmen Agustín, José Vicente Torres and Rafael Esteve.
Researchers from the Department of Cell Biology and Functional Biology of the University of Valencia have shown that mutation of the MECP2 gene alters the prolonged maturation — extending over much of the lifespan — of a specific population of neurons, which is the primary cause of Rett syndrome. This rare neurodevelopmental disorder, which affects almost exclusively girls and women, is the second leading genetic cause of intellectual disability in females and is characterised by symptoms such as epilepsy, motor impairment and breathing difficulties.
In a scientific article, the team led by Carmen Agustín Pavón, professor at the Faculty of Biological Sciences, explains that the neurons affected by prolonged maturation are located in the cerebral cortex of mammals and are particularly abundant in primates, including humans, although their function is not yet well understood. It is speculated that these neurons may constitute a reserve against ageing or disease, or serve as a source of neural plasticity during adulthood, contributing to learning-related processes.
The research line of the Laboratory of Functional Neuroanatomy of Rare Diseases focuses on investigating the molecular, cellular and physiological mechanisms that delay the maturation of these neurons. In this context, Carmen Agustín explains: “A better understanding of the consequences of MECP2 function loss on postnatal development and brain plasticity will help us identify new therapeutic targets to stimulate neural maturation, which is clearly impaired in Rett syndrome, with the aim of reducing symptoms”.
Furthermore, given that the disease primarily affects females, this study used female mice, as they provide a model more closely aligned with the human condition, although much research in this field has traditionally been conducted on male animals.
This research forms part of the doctoral thesis of University of Valencia researcher Rafael Esteve Pérez. Other contributors from the Department of Cell Biology and Functional Biology include Paloma Sevilla, Enrique Lanuza, Jose V. Torres Pérez and Vicente Herranz Pérez, the latter also a researcher at the Spanish Network Centre for Biomedical Research in Neurodegenerative Diseases (CIBERNED) of the Carlos III Health Institute. The research was funded by the Valencian Department for Education, Culture and Universities and by the Italian patient association ProRett.
Article reference: R. Esteve-Pérez et al. Doublecortin-expressing cells are selectively altered in the piriform cortex but not in neurogenic areas of symptomatic Mecp2-heterozygous mice. Neuroscience 593 (2026) 87–95. DOI: https://doi.org/10.1016/j.neuroscience.2025.12.010
Caption in the annx:
- Image: Representative drawings of immature neurons from a healthy mouse (WT) and a diseased mouse (Mecp2-het).
Categories: Recerca, innovació i transferència , Facultat de Ciències Biològiques , Investigació a la UV , Producció científica , Grups de recerca , Difusió i comunicació científica , Internacionalització recerca
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