首页|Modeling tuberous sclerosis complex with human induced pluripotent stem cells

Modeling tuberous sclerosis complex with human induced pluripotent stem cells

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Background Tuberous sclerosis complex(TSC)is an autosomal dominant genetic disorder with a birth incidence of 1∶6000 in the United States that is characterized by the growth of non-cancerous tumors in multiple organ systems including the brain,kidneys,lungs,and skin.Importantly,TSC is also associated with significant neurological manifestations including epilepsy,TSC-associated neuropsychiatric disorders,intellectual disabilities,and autism spectrum disorder.Mutations in the TSC1 or TSC2 genes are well-established causes of TSC,which lead to TSC1/TSC2 deficiency in organs and hyper-activation of the mammalian target of rapamycin signaling pathway.Animal models have been widely used to study the effect of TSC 1/2 genes on the development and function of the brain.Despite considerable progress in understanding the molecular mechanisms underlying TSC in animal models,a human-specific model is urgently needed to investigate the effects of TSC1/2 mutations that are unique to human neurodevelopment.Data sources Literature reviews and research articles were published in PubMed-indexed journals.Results Human-induced pluripotent stem cells(iPSCs),which capture risk alleles that are identical to their donors and have the capacity to differentiate into virtually any cell type in the human body,pave the way for the empirical study of previously inaccessible biological systems such as the developing human brain.Conclusions In this review,we present an overview of the recent progress in modeling TSC with human iPSC models,the existing limitations,and potential directions for future research.

Induced pluripotent stem cellsThree-dimensional culturesTuberous sclerosis complexTwo-dimensional cultures

Weibo Niu、Benjamin Siciliano、Zhexing Wen

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Department of Psychiatry and Behavioral Sciences,Emory University School of Medicine,Whitehead Research Building 447,615 Michael Street,Atlanta,GA 30322,USA

The Graduate Program in Molecular and Systems Pharmacology,Laney Graduate School,Emory University,Atlanta,GA 30322,USA

Department of Cell Biology,Emory University School of Medicine,Whitehead Research Building 447,615 Michael Street,Atlanta,GA 30322,USA

Department of Neurology,Emory University School of Medicine,Whitehead Research Building 447,615 Michael Street,Atlanta,GA 30322,USA

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美国国立卫生研究院项目美国国立卫生研究院项目美国国立卫生研究院项目Department of Defense grant

R01AG065611R01MH121102R21MH123711W81XWH1910353

2024

10.1007/s12519-022-00576-8

世界儿科杂志(英文版)

世界儿科杂志(英文版)

CSTPCD
ISSN：
年,卷(期)：2024.20(3)
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