J 2023

Cerebral organoids derived from patients with Alzheimer´s disease with PSEN1/2 mutations have defective tissue patterning and altered development

VÁŇOVÁ, Tereza; Jiří SEDMÍK; Jan RAŠKA; Kateřina AMRUZ ČERNÁ; Petr TAUŠ et al.

Basic information

Original name

Cerebral organoids derived from patients with Alzheimer´s disease with PSEN1/2 mutations have defective tissue patterning and altered development

Authors

VÁŇOVÁ, Tereza; Jiří SEDMÍK; Jan RAŠKA; Kateřina AMRUZ ČERNÁ; Petr TAUŠ; Veronika POSPÍŠILOVÁ; Markéta NEZVEDOVÁ; Veronika FEDOROVÁ; Soňa KADÁKOVÁ; Hana KLÍMOVÁ; Michaela CAPANDOVÁ; Petra ORVISKÁ; Petr FOJTÍK; Simona BÁRTOVÁ; Karla PLEVOVÁ; Zdeněk SPÁČIL; Hana HŘÍBKOVÁ and Dáša BOHAČIAKOVÁ

Edition

CELL REPORTS, UNITED STATES, CELL PRESS, 2023, 2211-1247

Other information

Language

English

Type of outcome

Article in a journal

Country of publisher

United States of America

Confidentiality degree

is not subject to a state or trade secret

References:

URL

Marked to be transferred to RIV

Yes

RIV identification code

RIV/00216224:14110/23:00132029

Organization

Lékařská fakulta – Repository – Repository

DOI

https://doi.org/10.1016/j.celrep.2023.113310

UT WoS

001096821600001

EID Scopus

2-s2.0-85174468116

Keywords in English

Cerebral organoids; Alzheimer's disease; PSEN1/2 mutations

Links

CZ.02.1.01/0.0/0.0/16_013/0001761, interní kód Repo. EF15_003/0000469, research and development project. EF16_013/0001761, research and development project. EF17_043/0009632, research and development project. EF19_073/0016943, research and development project. GA20-15728S, research and development project. GA21-21510S, research and development project. LX22NPO5107, research and development project. MUNI/A/1301/2022, interní kód Repo. MUNI/G/1131/2017, interní kód Repo. MUNI/IGA/1273/2021, interní kód Repo. MUNI/R/1321/2021, interní kód Repo. MUNI/R/1697/2020, interní kód Repo. NU20-08-00314, research and development project. NU21-08-00373, research and development project. NU22J-08-00075, research and development project. NU22-04-00366, research and development project. NV19-08-00472, research and development project. 101087124, interní kód Repo. 8F20009, research and development project. 857560, interní kód Repo. RECETOX RI, large research infrastructures. Czech-BioImaging II, large research infrastructures. NCMG II, large research infrastructures.
Changed: 17/1/2025 00:50, RNDr. Daniel Jakubík

Abstract

In the original language

During the past two decades, induced pluripotent stem cells (iPSCs) have been widely used to study human neural development and disease. Especially in the field of Alzheimer’s disease (AD), remarkable effort has been put into investigating molecular mechanisms behind this disease. Then, with the advent of 3D neuronal cultures and cerebral organoids (COs), several studies have demonstrated that this model can adequately mimic familial and sporadic AD. Therefore, we created an AD-CO model using iPSCs derived from patients with familial AD forms and explored early events and the progression of AD pathogenesis. Our study demonstrated that COs derived from three AD-iPSC lines with PSEN1(A246E) or PSEN2(N141I) mutations developed the AD-specific markers in vitro, yet they also uncover tissue patterning defects and altered development. These findings are complemented by single-cell sequencing data confirming this observation and uncovering that neurons in AD-COs likely differentiate prematurely.
Displayed: 21/6/2026 04:39