Involvement of Mitochondrial Dysfunction in FOXG1 Syndrome

Victoria A. Bjerregaard, Amanda M. Levy, Mille S. Batz, Ravina Salehi, Mathis Hildonen, Trine B. Hammer, Rikke S. Møller, Claus Desler, Zeynep Tümer*

*Corresponding author for this work

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Abstract

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.

Original languageEnglish
Article number246
JournalGenes
Volume14
Issue number2
ISSN2073-4425
DOIs
Publication statusPublished - 2023

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© 2023 by the authors.

Keywords

  • FOXG1 syndrome
  • mitochondrial dysfunction
  • mitochondrial homeostasis
  • mitochondrial morphology
  • mitochondrial respiratory capacity
  • neurodevelopmental disorders

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