Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs

Gabsang Lee, Eirini P. Papapetrou, Hyesoo Kim, Stuart M. Chambers, Mark J. Tomishima, Christopher A. Fasano, Yosif M. Ganat, Jayanthi Menon, Fumiko Shimizu, Agnes Viale, Viviane Tabar, Michel Sadelain and Lorenz Studer ()
Additional contact information
Gabsang Lee: Developmental Biology Program,
Eirini P. Papapetrou: Center for Cell Engineering,
Hyesoo Kim: Developmental Biology Program,
Stuart M. Chambers: Developmental Biology Program,
Mark J. Tomishima: Developmental Biology Program,
Christopher A. Fasano: Developmental Biology Program,
Yosif M. Ganat: Developmental Biology Program,
Jayanthi Menon: Department of Neurosurgery,
Fumiko Shimizu: Department of Neurosurgery,
Agnes Viale: Genomics Core Facility, Sloan-Kettering Institute, 1275 York Ave,
Viviane Tabar: Center for Cell Engineering,
Michel Sadelain: Center for Cell Engineering,
Lorenz Studer: Developmental Biology Program,

Nature, 2009, vol. 461, issue 7262, 402-406

Abstract: Familial dysautonomia: iPS cell disease model Familial dysautonomia is a rare and fatal peripheral neuropathy caused by a mutation in the gene IKBKAP that encodes a protein involved in transcriptional elongation. Lee et al. report the derivation of patient-specific iPS (induced pluripotent stem) cells and the directed differentiation into cells of all three germ layers including peripheral neurons. Gene expression analysis revealed tissue-specific mis-splicing of IKBKAP in vitro, with the patients' neural crest precursors expressing particularly low levels of normal IKBKAP transcript, suggesting a mechanism for disease specificity. Transcriptome analysis and cell-based assays showed defects in neurogenic differentiation and migration behaviour. This work is a step towards using iPS technology to produce relevant human disease models, and in functional assays for the identification of candidate drugs.

Date: 2009
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DOI: 10.1038/nature08320

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