Modeling Human Congenital Disorders with Neural Crest Developmental Defects Using Patient-derived Induced Pluripotent Stem Cells

Overview

Journal Regen Ther

Date 2021 Sep 10

PMID 34504908

Citations 3

Authors

Hironobu Okuno

Hideyuki Okano

Affiliations

Soon will be listed here.

Abstract

The neural crest is said to be the fourth germ layer in addition to the ectoderm, mesoderm and endoderm because of its ability to differentiate into a variety of cells that contribute to the various tissues of the vertebrate body. Neural crest cells (NCCs) can be divided into three functional groups: cranial NCCs, cardiac NCCs and trunk NCCs. Defects related to NCCs can contribute to a broad spectrum of syndromes known as neurocristopathies. Studies on the neural crest have been carried out using animal models such as , chicks, and mice. However, the precise control of human NCC development has not been elucidated in detail due to species differences. Using induced pluripotent stem cell (iPSC) technology, we developed an disease model of neurocristopathy by inducing the differentiation of patient-derived iPSCs into NCCs and/or neural crest derivatives. It is now possible to address complicated questions regarding the pathogenetic mechanisms of neurocristopathies by characterizing cellular biological features and transcriptomes and by transplanting patient-derived NCCs . Here, we provide some examples that elucidate the pathophysiology of neurocristopathies using disease modeling via iPSCs.

Citing Articles

Alternative Balance between Transcriptional and Epigenetic Regulation during Developmental Proliferation of Human Cranial Neural Crest Cells.

Desterke C, Frances R, Monge C, Marchio A, Pineau P, Mata-Garrido J Cells. 2024; 13(19.

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Clinical and Genetic Correlation in Neurocristopathies: Bridging a Precision Medicine Gap.

Chatzi D, Kyriakoudi S, Dermitzakis I, Manthou M, Meditskou S, Theotokis P J Clin Med. 2024; 13(8).

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