Research ArticleNeurological Disease

Human neurons from Christianson syndrome iPSCs reveal mutation-specific responses to rescue strategies

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Science Translational Medicine  10 Feb 2021:
Vol. 13, Issue 580, eaaw0682
DOI: 10.1126/scitranslmed.aaw0682

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To each mutation its own treatment

Mutations in the gene encoding the endosomal Na+/H+ exchanger 6 (NHE6) cause Christianson syndrome (CS), a neurological disease associated with epilepsy, reduced brain growth, and impaired cognitive abilities. To understand the mechanisms involved in disease pathophysiology and to identify potential treatments, Lizarraga et al. used five induced pluripotent stem cell (iPSC) lines from patients with CS harboring different mutations. Most of the mutations lead to loss of protein, with one exception, that which is associated with a complex loss-of-function mechanism. Gene therapy was shown to rescue cellular abnormalities in a mutation-specific fashion, whereas administration of exogenous trophic factors was effective in all the lines examined.

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