Involvement of Mitochondrial Dysfunction in FOXG1 Syndrome
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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.
I: Genes, Bind 14, Nr. 2, 246, 2023.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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TY - JOUR
T1 - Involvement of Mitochondrial Dysfunction in FOXG1 Syndrome
AU - Bjerregaard, Victoria A.
AU - Levy, Amanda M.
AU - Batz, Mille S.
AU - Salehi, Ravina
AU - Hildonen, Mathis
AU - Hammer, Trine B.
AU - Møller, Rikke S.
AU - Desler, Claus
AU - Tümer, Zeynep
N1 - Publisher Copyright: © 2023 by the authors.
PY - 2023
Y1 - 2023
N2 - 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.
AB - 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.
KW - FOXG1 syndrome
KW - mitochondrial dysfunction
KW - mitochondrial homeostasis
KW - mitochondrial morphology
KW - mitochondrial respiratory capacity
KW - neurodevelopmental disorders
U2 - 10.3390/genes14020246
DO - 10.3390/genes14020246
M3 - Journal article
C2 - 36833172
AN - SCOPUS:85148899149
VL - 14
JO - Genes
JF - Genes
SN - 2073-4425
IS - 2
M1 - 246
ER -
ID: 340109782