International Journal of Stem Cells : eISSN 2005-5447

Table. 2.

Table. 2.

NDDs and other neural disorders modeled so far/can be potentially modeled using region-specific brain organoids

Region-specific organoid type Neurodevelopment disorder modelled/Potential application Modeled gene mutation/environmental condition Patient specific (PS)/
Genetically modified (GM)
References
Cortical organoids Microcephaly ASPM PS (68)
Zika virus infection - (42, 71)
Microcephaly associated with Aicardi-Goutières syndrome TREX1 PS & GM (72)
Lissencephaly LIS1 GM (75)
Miller-Dieker Syndrome 17p13.3 deletion PS (76)
Rett syndrome MeCP2 GM (80)
Schizophrenia DISC1 PS (46, 82)
Autism spectrum disorder (ASD) Idiopathic PS (40)
Pelizaeus-Merzbacher disease PLP1 PS (86)
Tuberous sclerosis complex TSC1 TSC2 GM (88)
Japanese encephalitis JEV infection - (89)
MGE organoids Rett syndrome MeCP2 GM (80)
Thalamus organoids Potential to model epilepsy, ASD, schizophrenia and depression
Hypothalamus
organoids
Prader-Willi syndrome 15q11.2-q13 deletion PS (55)
Pituitary organoids Congenital pituitary hypoplasia OTX2 PS (95)
Cerebellum organoids Medulloblastoma SMARCA4 Overexpression of mutant protein (96)
Potential to model spinocerebellar ataxia (SCA), Dandy-Walker syndrome and Angelman syndrome
Assembloids Timothy syndrome (assembly of pallial and subpallial organoids) CACNA1C PS (45)
Potential to model neuropsychiatric disorders
Other neural disorders
Cortical organoid Alzheimer’s disease APP duplication
PSEN1
PS (101)
PSEN1 PS (102)
Hippocampus Potential to model cognitive dysfunctions due to Alzheimer’s disease
Midbrain Parkinson’s Disease LRRK2 GM (103, 104)
International Journal of Stem Cells 2022;15:26-40 https://doi.org/10.15283/ijsc22006
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