| Title: |
Involvement of Mitochondrial Dysfunction in FOXG1 Syndrome |
| Authors: |
Victoria A. Bjerregaard; Amanda M. Levy; Mille S. Batz; Ravina Salehi; Mathis Hildonen; Trine B. Hammer; Rikke S. Møller; Claus Desler; Zeynep Tümer |
| Source: |
Genes ; Volume 14 ; Issue 2 ; Pages: 246 |
| Publisher Information: |
Multidisciplinary Digital Publishing Institute |
| Publication Year: |
2023 |
| Collection: |
MDPI Open Access Publishing |
| Subject Terms: |
FOXG1 syndrome; neurodevelopmental disorders; mitochondrial dysfunction; mitochondrial homeostasis; mitochondrial morphology; mitochondrial respiratory capacity |
| Description: |
FOXG1 (Forkhead box g1) syndrome is a neurodevelopmental disorder caused by a defective transcription factor, FOXG1, important for normal brain development and function. As FOXG1 syndrome and mitochondrial disorders have shared symptoms and FOXG1 regulates mitochondrial function, we investigated whether defective FOXG1 leads to mitochondrial dysfunction in five individuals with FOXG1 variants compared to controls (n = 6). We observed a significant decrease in mitochondrial content and adenosine triphosphate (ATP) levels and morphological changes in mitochondrial network in the fibroblasts of affected individuals, indicating involvement of mitochondrial dysfunction in FOXG1 syndrome pathogenesis. Further investigations are warranted to elucidate how FOXG1 deficiency impairs mitochondrial homeostasis. |
| Document Type: |
text |
| File Description: |
application/pdf |
| Language: |
English |
| Relation: |
Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes14020246 |
| DOI: |
10.3390/genes14020246 |
| Availability: |
https://doi.org/10.3390/genes14020246 |
| Rights: |
https://creativecommons.org/licenses/by/4.0/ |
| Accession Number: |
edsbas.8BDA098E |
| Database: |
BASE |