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Gene expression of iPSC-derived neurons from patient with Mohr-Tranebjaerg syndrome and healthy control

GSE284292 Homo sapiens Expression profiling by high throughput sequencing 6 samples Submitted 2025/03/19 Platform GPL29480
Summary
Mohr-Tranebjaerg syndrome (MTS) is a neurodegenerative disease caused by mutations in Translocase of Inner Mitochondrial Membrane 8A/Deafness Dystonia Protein 1 (TIMM8A/DDP1), which encodes TIMM8a/DDP1 located in the intermembrane space (IMS) of mitochondria. Up to now, the pathophysiology of MTS remains unclear. In this study, we established induced pluripotent stem cells (iPSCs) derived from MTS patient carrying the TIMM8a loss-of-function pathogenic variant, p.Q75fs95* to study the mechanism of MTS. We found that MTS-iPSCs presented defects in neuronal differentiation, exhibited smaller somata, fewer branches and shorter neurites, accompanied by mitochondrial dysfunction including fragmented mitochondria, reduced ATP and elevated ROS.
Published in
CHCHD2 rescues the mitochondrial dysfunction in iPSC-derived neurons from patient with Mohr-Tranebjaerg syndrome
Huang Y, Chen Z, Deng W et al. · Cell death & disease 2025 · PMID 40075073 · doi:10.1038/s41419-025-07472-9
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Direct links to NCBI, no account and no request form: the whole study as GSE284292_RAW.tar, processed values as the series matrix, the supplementary file directory, and per-sample supplementary files for any of the 6 samples. Raw sequencing reads are also available from ENA.

Also filed as BioProject PRJNA1198352 and SRA study SRP551466. Searching any of these in the dataset finder brings you back here.

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