Genetics of Fragile X Syndrome

(Stem Cells News image)

While only a small portion of autism spectrum disorders (ASDs) can be traced to their genetic roots, those that can are most often part of Fragile X syndrome (FXS), the most commonly known single-gene cause of autism. FXS is associated with the loss of the FMR protein (FMRP) coded by the mental retardation gene 1, FMR1 gene.

While scientists understand the biochemical nuances of these mutations, their implications on neuronal development and function remain a mystery. To address this puzzle, HSCI Associate Faculty member Stephen Haggarty, PhD, reprogrammed a series of both mutated and non-mutated cells back into a stem cell state in which they have the ability to derive new tissues.

Haggarty and his team found that the FMR1 mutations present in the induced pluripotent stem cells (iPSCs) do not always resemble those in the naturally occurring cells from which they came. This offers valuable information as other researchers begin to design investigations using these iPSCs.

Additionally, the team used the cell lines to generate a variety of neuronal cell types. While FMRP loss did not prevent neurodevelopment, it did impact cell quality, suggesting an important role for FMRP early in human neurodevelopment. These findings will allow researchers to characterize existing drugs and develop new therapies for the treatment of some ASDs.

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