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Involvement of Mitochondrial Dysfunction in FOXG1 Syndrome.

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.

SUBMITTER: Bjerregaard VA

PROVIDER: S-EPMC9957531 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature

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Involvement of Mitochondrial Dysfunction in FOXG1 Syndrome.

Bjerregaard Victoria A VA Levy Amanda M AM Batz Mille S MS Salehi Ravina R Hildonen Mathis M Hammer Trine B TB Møller Rikke S RS Desler Claus C Tümer Zeynep Z

Genes 20230117 2

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 mitochon ...[more]

PMID: 36833172

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