Involvement of Mitochondrial Dysfunction in IFOXG1/I 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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Bibliographic Details
Published in:Genes 2023-01, Vol.14 (2)
Main Authors: Bjerregaard, Victoria A, Levy, Amanda M, Batz, Mille S, Salehi, Ravina, Hildonen, Mathis, Hammer, Trine B, Møller, Rikke S, Desler, Claus, Tümer, Zeynep
Format: Article
Language:English
Subjects:
Adenosine triphosphate
Analysis
Care and treatment
Development and progression
Diagnosis
Gene expression
Genetic aspects
Health aspects
Homeostasis
Mitochondrial diseases
Neurologic manifestations of general diseases
Transcription factors
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Summary: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.
ISSN:2073-4425
2073-4425
DOI:10.3390/genes14020246