The complexity of Rett syndrome models: Primary fibroblasts as a disease-in-a-dish reliable approach

Abstract

Rett syndrome (RTT) is a progressive neurodevelopmental disease, which affects almost exclusively the female gender (prevalence of about 1:10,000). RTT symptoms are usually characterized by loss of purposeful hand skills, mental retardation and motor impairment, resulting in a plethora of other systemic co-morbidities. Mutations in the methyl-CpG binding protein 2 gene (MECP2) are the main genetic cause of the disorder, however molecular mechanisms leading from MeCP2 defects to this complicated pathology still need to be clarified. To investigate this and other aspects of RTT, several experimental models have been generated that include animal models, and in vitro approaches. In this article we briefly summarized the main models used for RTT investigations, and special focus is given to the use of primary fibroblasts isolated from RTT patients, since they represent a reliable disease-in-a-dish model, which can help researcher to elucidate cellular and molecular mechanisms of this disease.