Modeling PCDH19-CE: From 2D Stem Cell Model to 3D Brain Organoids.
PCDH19
brain organoids
disease model
iPSCs
neurogenesis
neurons
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
23 Mar 2022
23 Mar 2022
Historique:
received:
28
02
2022
revised:
16
03
2022
accepted:
21
03
2022
entrez:
12
4
2022
pubmed:
13
4
2022
medline:
14
4
2022
Statut:
epublish
Résumé
PCDH19 clustering epilepsy (PCDH19-CE) is a genetic disease characterized by a heterogeneous phenotypic spectrum ranging from focal epilepsy with rare seizures and normal cognitive development to severe drug-resistant epilepsy associated with intellectual disability and autism. Unfortunately, little is known about the pathogenic mechanism underlying this disease and an effective treatment is lacking. Studies with zebrafish and murine models have provided insights on the function of PCDH19 during brain development and how its altered function causes the disease, but these models fail to reproduce the human phenotype. Induced pluripotent stem cell (iPSC) technology has provided a complementary experimental approach for investigating the pathogenic mechanisms implicated in PCDH19-CE during neurogenesis and studying the pathology in a more physiological three-dimensional (3D) environment through the development of brain organoids. We report on recent progress in the development of human brain organoids with a particular focus on how this 3D model may shed light on the pathomechanisms implicated in PCDH19-CE.
Identifiants
pubmed: 35408865
pii: ijms23073506
doi: 10.3390/ijms23073506
pmc: PMC8998847
pii:
doi:
Substances chimiques
Cadherins
0
Protocadherins
0
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Fondazione Bambino Gesù
ID : Vite coraggiose
Organisme : Italian Ministry of Health
ID : Ricerca Corrente
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