| title: |
| In vitro disease modeling and pathophysiological characterization of fatty acid hydroxylase-associated
neurodegeneration |
|
| contributing persons: |
| Fatima Efendic[VerfasserIn] |
 |
0000-0002-8462-0690 |
 |
1389432386 |
| Andreas Wree[AkademischeR BetreuerIn] |
|
136643280 |
|
Institut für Anatomie, Universitätsmedizin Rostock |
| Philip Seibler[AkademischeR BetreuerIn] |
|
Institute of Neurogenetics, University of Lübeck |
| Andreas Hermann[AkademischeR BetreuerIn] |
|
0000-0002-7364-7791 |
|
132948664 |
|
Klinik und Poliklinik für Neurologie, Universitätsmedizin Rostock |
|
| contributing corporate bodies: |
| Universität Rostock[Grad-verleihende Institution] |
|
38329-6 |
| Universitätsmedizin Rostock[Grad-verleihende Institution] |
|
1029510660 |
|
| |
| abstract: |
|
Demyelination and neurodegeneration are key features of FAHN, a rare disorder caused
by FA2H gene mutations. These mutations reduce enzymatic activity, leading to myelin
instability, demyelination, and axonal degradation. In this study, we derived neurons
and oligodendrocytes from FAHN patient hiPSCs and cocultured them to examine myelination
in vitro. FA2H-deficient cells showed impaired myelination, with lower myelin protein
levels and altered axonal structures, including shorter internodes and irregular Ranvier
nodes.
[English] |
|
Demyelinisierung und Neurodegeneration sind Hauptmerkmale von FAHN, einer seltenen
Erkrankung durch FA2H-Mutationen. Diese verringern die Enzymaktivität, was Myelinstabilität,
Demyelinisierung und axonalen Abbau verursacht. Wir leiteten Neuronen und Oligodendrozyten
aus hiPSCs eines FAHN-Patienten ab und kokultivierten sie, um die Myelinisierung in
vitro zu untersuchen. FA2H-defiziente Zellen zeigten reduzierte Myelinproteine, verkürzte
Internodien und unregelmäßige Ranvier-Schnürringe.
[German] |
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| document type: |
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| institution: |
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| language: |
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| subject class (DDC): |
| 610 Medical sciences Medicine |
|
| extent: |
|
1 Online-Ressource (139, 3 Seiten)
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| |
publication /
production: |
Rostock
|
Rostock: Universität Rostock
|
|
13.09.2024
(normalised date: 2024) |
|
| statement of responsibility: |
| vorgelegt von Fatima Efendic |
|
| |
| identifiers: |
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| |
| access condition: |
|
| license/rights statement: |
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|
| RosDok id: |
rosdok_disshab_0000003412 |
| created / modified: |
10.02.2026 / 10.02.2026
|
| metadata license: |
The metadata of this document was dedicated to the public domain
(CC0 1.0 Universal Public Domain Dedication). |
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