Involvement of Mitochondrial Dysfunction in FOXG1 Syndrome

Autor:	Victoria A. Bjerregaard, Amanda M. Levy, Mille S. Batz, Ravina Salehi, Mathis Hildonen, Trine B. Hammer, Rikke S. Møller, Claus Desler, Zeynep Tümer
Rok vydání:	2023
Předmět:	mitochondrial morphology neurodevelopmental disorders mitochondrial dysfunction FOXG1 syndrome Genetics Genetics (clinical) mitochondrial homeostasis mitochondrial respiratory capacity
Zdroj:	Bjerregaard, V A, Levy, A M, Batz, M S, Salehi, R, Hildonen, M, Hammer, T B, Møller, R S, Desler, C & Tümer, Z 2023, ' Involvement of Mitochondrial Dysfunction in FOXG1 Syndrome ', Genes, vol. 14, no. 2, 246 . https://doi.org/10.3390/genes14020246
ISSN:	2073-4425
DOI:	10.3390/genes14020246
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b99f66bc44aa98bba09bd40209560972 https://doi.org/10.3390/genes14020246 Zobrazit plný text záznamu