iPSC models of mitochondrial diseases
Mitochondrial diseases are historically difficult to study. They cause multi-systemic defects with prevalent impairment of hard-to-access tissues such as the brain and the heart. Furthermore, they suffer from a paucity of conventional model systems, especially because of the challenges associated wi...
Saved in:
| Main Authors: | , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-04-01
|
| Series: | Neurobiology of Disease |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S0969996125000385 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850225041335123968 |
|---|---|
| author | Sonja Heiduschka Alessandro Prigione |
| author_facet | Sonja Heiduschka Alessandro Prigione |
| author_sort | Sonja Heiduschka |
| collection | DOAJ |
| description | Mitochondrial diseases are historically difficult to study. They cause multi-systemic defects with prevalent impairment of hard-to-access tissues such as the brain and the heart. Furthermore, they suffer from a paucity of conventional model systems, especially because of the challenges associated with mitochondrial DNA (mtDNA) engineering. Consequently, most mitochondrial diseases are currently untreatable. Human induced pluripotent stem cells (iPSCs) represent a promising approach for developing human model systems and assessing therapeutic avenues in a patient- and tissue-specific context. iPSCs are being increasingly used to investigate mitochondrial diseases, either for dissecting mutation-specific defects within two-dimensional (2D) or three-dimensional (3D) progenies or for unveiling the impact of potential treatment options. Here, we review how iPSC-derived 2D cells and 3D organoid models have been applied to the study of mitochondrial diseases caused by either nuclear or mtDNA defects. We anticipate that the field of iPSC-driven modeling of mitochondrial diseases will continue to grow, likely leading to the development of innovative platforms for treatment discovery and toxicity that could benefit the patient community suffering from these debilitating disorders with highly unmet medical needs. |
| format | Article |
| id | doaj-art-6ca363d7b1114752b49ccee781dc3d2e |
| institution | OA Journals |
| issn | 1095-953X |
| language | English |
| publishDate | 2025-04-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Neurobiology of Disease |
| spelling | doaj-art-6ca363d7b1114752b49ccee781dc3d2e2025-08-20T02:05:28ZengElsevierNeurobiology of Disease1095-953X2025-04-0120710682210.1016/j.nbd.2025.106822iPSC models of mitochondrial diseasesSonja Heiduschka0Alessandro Prigione1Faculty of Mathematics and Natural Sciences, Heinrich Heine University Düsseldorf, Germany; Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, GermanyDepartment of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Germany; Corresponding author at: Department of General Pediatrics, Neonatology and Pediatric Cardiology, Duesseldorf University Hospital, Heinrich Heine University, Moorenstr. 5, 40225 Duesseldorf, Germany.Mitochondrial diseases are historically difficult to study. They cause multi-systemic defects with prevalent impairment of hard-to-access tissues such as the brain and the heart. Furthermore, they suffer from a paucity of conventional model systems, especially because of the challenges associated with mitochondrial DNA (mtDNA) engineering. Consequently, most mitochondrial diseases are currently untreatable. Human induced pluripotent stem cells (iPSCs) represent a promising approach for developing human model systems and assessing therapeutic avenues in a patient- and tissue-specific context. iPSCs are being increasingly used to investigate mitochondrial diseases, either for dissecting mutation-specific defects within two-dimensional (2D) or three-dimensional (3D) progenies or for unveiling the impact of potential treatment options. Here, we review how iPSC-derived 2D cells and 3D organoid models have been applied to the study of mitochondrial diseases caused by either nuclear or mtDNA defects. We anticipate that the field of iPSC-driven modeling of mitochondrial diseases will continue to grow, likely leading to the development of innovative platforms for treatment discovery and toxicity that could benefit the patient community suffering from these debilitating disorders with highly unmet medical needs.http://www.sciencedirect.com/science/article/pii/S0969996125000385Mitochondrial diseasesDisease modelingPluripotent stem cellsBrain organoidsDrug discovery |
| spellingShingle | Sonja Heiduschka Alessandro Prigione iPSC models of mitochondrial diseases Neurobiology of Disease Mitochondrial diseases Disease modeling Pluripotent stem cells Brain organoids Drug discovery |
| title | iPSC models of mitochondrial diseases |
| title_full | iPSC models of mitochondrial diseases |
| title_fullStr | iPSC models of mitochondrial diseases |
| title_full_unstemmed | iPSC models of mitochondrial diseases |
| title_short | iPSC models of mitochondrial diseases |
| title_sort | ipsc models of mitochondrial diseases |
| topic | Mitochondrial diseases Disease modeling Pluripotent stem cells Brain organoids Drug discovery |
| url | http://www.sciencedirect.com/science/article/pii/S0969996125000385 |
| work_keys_str_mv | AT sonjaheiduschka ipscmodelsofmitochondrialdiseases AT alessandroprigione ipscmodelsofmitochondrialdiseases |