Zebrafish as a disease model for studying human Rett Syndrome

Vitorino, M.; Conceicao, N.; Adrião, Andreia Lúcia Gonçalves; Cancela, M. Leonor

http://hdl.handle.net/10400.1/9535

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Authors

Vitorino, M.

Conceicao, N.

Adrião, Andreia Lúcia Gonçalves

Cancela, M. Leonor

Abstract(s)

Background: Rett syndrome (RTT) is a severe neurological disorder that affects almost exclusively females. This disease is characterized by normal growth and intellectual development until around the first year, then progression in development starts to slow down, with loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability. Mutations in the X-linked genes methyl-CpG-binding protein 2 (MECP2) and cyclin-dependent kinase-like 5 (CDKL5) were described in RTT and recently several bone diseases related with decreased bone mass were also described in those patients, starting early in life. Because zebrafish was largely validated as a model for human diseases, the main objective of this work was to investigate if zebrafish can be a good model to study RTT.