Review Article
Induced Pluripotent Stem Cells to Model and Treat Neurogenetic Disorders
Table 2
Genetic neurodegenerative disorders modeled with iPSCs.
| Disease | Genetic defects | iPSC derived cell types | Disease phenocopied in iPSCs or differentiated cells | Drug or functional tests |
| Spinal muscular atrophy | Mutation in SMN1 | Neuronal cultures; motor neurons | Yes | Yes | Familial dysautonomia | Mutation in IKBKAP | Cells of all three germ layers including peripheral neurons | Yes | Yes | Amyotrophic lateral sclerosis | Mutation in SOD1 | Motor neurons | NA | No | Mutation in VAPB | Motor neurons | Yes | No | Mutation in TAP-43 | Neurons and motor neurons | Yes | Yes | Huntington’s disease | Excessive expansion of CAG repeat in Huntingtin gene | Neuronal precursors, striatal neurons, astrocytes | Yes | Yes | Friedreich ataxia | GAA repeat expansion in the FXN gene | Peripheral neurons and cardiomyocytes | Yes | No | Machado-Joseph disease | Expansion of CAG repeats in the MJD1 (ATXN3) gene | Neurons, fibroblasts and glia | Yes | Yes | X-linked adrenoleuko-dystrophy | Mutation in ABCD1 | Oligodendrocytes and neurons | Yes | Yes | Alzheimer’s disease | Mutations in PS1 and PS2 | Neurons | Yes | Yes | Duplication of APP | Neurons | Yes | Yes | Parkinson’s disease | Mutation in LRRK2 | Dopaminergic neurons | Yes | Yes | Mutations in PINK1 | Dopaminergic neurons | Yes | Yes | Triplication of SNCA | Dopaminergic neurons | Yes | Yes | Mutation in PARKIN | Dopaminergic neurons | Yes | Yes |
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