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Human disease

iPSCs take the next step

Nature Reviews Genetics volume 10, pages 662–663 (2009)Cite this article

FD is characterized by the degeneration of specific peripheral neurons. It is caused by recessive mutations in the IκB kinase complex-associated protein (IKBKAP) gene, which lead to splicing defects and consequently to lowered levels of IKAP (the protein product of the gene). The mechanistic link between lowered IKAP levels and neuronal pathology is unclear, and the inaccessibility of the affected tissues has made it difficult to test candidate drugs in vivo.

To overcome both of these problems, the authors generated iPSCs from the fibroblasts of three FD patients and from controls; the iPSCs thus generated were differentiated into five tissues — from all three germ layers — and then subdivided further according to lineage subtype.

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ORIGINAL RESEARCH PAPER

  1. Lee, G. et al. Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs. Nature 19 Aug 2009 (doi:10.1038/nature08320)

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  1. Tanita Casci
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Casci, T. iPSCs take the next step. Nat Rev Genet 10, 662–663 (2009). https://doi.org/10.1038/nrg2667

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