Involvement of Mitochondrial Dysfunction in FOXG1 Syndrome

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 whe...

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Autores principales: Bjerregaard, Victoria A., Levy, Amanda M., Batz, Mille S., Salehi, Ravina, Hildonen, Mathis, Hammer, Trine B., Møller, Rikke S., Desler, Claus, Tümer, Zeynep
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9957531/
https://www.ncbi.nlm.nih.gov/pubmed/36833172
http://dx.doi.org/10.3390/genes14020246
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author Bjerregaard, Victoria A.
Levy, Amanda M.
Batz, Mille S.
Salehi, Ravina
Hildonen, Mathis
Hammer, Trine B.
Møller, Rikke S.
Desler, Claus
Tümer, Zeynep
author_facet Bjerregaard, Victoria A.
Levy, Amanda M.
Batz, Mille S.
Salehi, Ravina
Hildonen, Mathis
Hammer, Trine B.
Møller, Rikke S.
Desler, Claus
Tümer, Zeynep
author_sort Bjerregaard, Victoria A.
collection PubMed
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.
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spelling pubmed-99575312023-02-25 Involvement of Mitochondrial Dysfunction in FOXG1 Syndrome Bjerregaard, Victoria A. Levy, Amanda M. Batz, Mille S. Salehi, Ravina Hildonen, Mathis Hammer, Trine B. Møller, Rikke S. Desler, Claus Tümer, Zeynep Genes (Basel) Brief Report 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. MDPI 2023-01-17 /pmc/articles/PMC9957531/ /pubmed/36833172 http://dx.doi.org/10.3390/genes14020246 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Brief Report
Bjerregaard, Victoria A.
Levy, Amanda M.
Batz, Mille S.
Salehi, Ravina
Hildonen, Mathis
Hammer, Trine B.
Møller, Rikke S.
Desler, Claus
Tümer, Zeynep
Involvement of Mitochondrial Dysfunction in FOXG1 Syndrome
title Involvement of Mitochondrial Dysfunction in FOXG1 Syndrome
title_full Involvement of Mitochondrial Dysfunction in FOXG1 Syndrome
title_fullStr Involvement of Mitochondrial Dysfunction in FOXG1 Syndrome
title_full_unstemmed Involvement of Mitochondrial Dysfunction in FOXG1 Syndrome
title_short Involvement of Mitochondrial Dysfunction in FOXG1 Syndrome
title_sort involvement of mitochondrial dysfunction in foxg1 syndrome
topic Brief Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9957531/
https://www.ncbi.nlm.nih.gov/pubmed/36833172
http://dx.doi.org/10.3390/genes14020246
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