Dopaminergic neurons in chromosome 22q11.2 deletion syndrome

Inoue, Haruhisa

doi:10.1016/j.ebiom.2020.103180

Cited by 1 publication

(2 citation statements)

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“…Kyoto Encyclopedia of Genes and Genomes pathway analysis using the differentially expressed proteins indicated that the protein processing in the endoplasmic reticulum (ER) is the most enriched pathway. Based on this proteomic analysis, we identified the dysfunction of protein kinase R‐like endoplasmic reticulum kinase (PERK) as a key molecule contributing to the cellular phenotypes in iPSC‐derived dopaminergic neurons of patients with 22q11.2DS; for example, it causes poor tolerance to ER stress, poor contact between the ER and mitochondria, and abnormal F‐actin dynamics 38,56 . These phenotypes are detected across subjects and lines, regardless of their clinical manifestations.…”

Section: Attempt To Understand the Genetic‐based Latent Pathogenesis ...mentioning

confidence: 99%

“…Based on this proteomic analysis, we identified the dysfunction of protein kinase R-like endoplasmic reticulum kinase (PERK) as a key molecule contributing to the cellular phenotypes in iPSC-derived dopaminergic neurons of patients with 22q11.2DS; for example, it causes poor tolerance to ER stress, poor contact between the ER and mitochondria, and abnormal F-actin dynamics. 38,56 These phenotypes are detected across subjects and lines, regardless of their clinical manifestations. In addition, the mouse model of 22q11.2DS shows reduced expression of the PERK protein, but slightly less reduced than expression in iPSC-derived neurons from the patients.…”

Section: Attempt To Understand the Genetic-based Latent Pathogenesis ...mentioning

confidence: 99%

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Shedding light on latent pathogenesis and pathophysiology of mental disorders: The potential ofiPScell technology

Arioka

Okumura

Sakaguchi

et al. 2023

Psychiatry Clin Neurosci

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Mental disorders are considered as one of the major healthcare issues worldwide owing to their significant impact on the quality of life of patients, causing serious social burdens. However, it is hard to examine the living brain—a source of psychiatric symptoms—at the cellular, subcellular, and molecular levels, which poses difficulty in determining the pathogenesis and pathophysiology of mental disorders. Recently, induced pluripotent stem cell (iPSC) technology has been used as a novel tool for research on mental disorders. We believe that the iPSC‐based studies will address the limitations of other research approaches, such as human genome, postmortem brain study, brain imaging, and animal model analysis. Notably, studies using integrated iPSC technology with genetic information have provided significant novel findings to date. This review aimed to discuss the history, current trends, potential, and future of iPSC technology in the field of mental disorders. Although iPSC technology has several limitations, this technology can be used in combination with the other approaches to facilitate studies on mental disorders.

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Section: Attempt To Understand the Genetic‐based Latent Pathogenesis ...mentioning

confidence: 99%

Section: Attempt To Understand the Genetic-based Latent Pathogenesis ...mentioning

confidence: 99%

Shedding light on latent pathogenesis and pathophysiology of mental disorders: The potential ofiPScell technology

Arioka

Okumura

Sakaguchi

et al. 2023

Psychiatry Clin Neurosci

View full text Add to dashboard Cite

show abstract

Dopaminergic neurons in chromosome 22q11.2 deletion syndrome

Cited by 1 publication

References 10 publications

Shedding light on latent pathogenesis and pathophysiology of mental disorders: The potential ofiPScell technology

Shedding light on latent pathogenesis and pathophysiology of mental disorders: The potential ofiPScell technology

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