Human pluripotent stem cell models of Fragile X Syndrome

Publication date: Available online 27 November 2015 Source:Molecular and Cellular Neuroscience Author(s): Anita Bhattacharyya, Xinyu Zhao Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and autism. The causal mutation in FXS is a trinucleotide CGG repeat expansion in the FMR1 gene that leads to human specific epigenetic silencing and loss of Fragile X Mental Retardation Protein (FMRP) expression. Human pluripotent stem cells (PSCs), including human embryonic stem cells (ESCs) and particularly induced PSCs (iPSCs), offer a model system to reveal cellular and molecular events underlying human neuronal development and function in FXS. Human FXS PSCs have been established and have provided insight into the epigenetic silencing of the FMR1 gene as well as aspects of neuronal development. Graphical abstract
Source: Molecular and Cellular Neuroscience - Category: Neuroscience Source Type: research