Involvement of Mitochondrial Dysfunction in FOXG1 Syndrome

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Standard

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

Harvard

Bjerregaard, VA, Levy, AM, Batz, MS, Salehi, R, Hildonen, M, Hammer, TB, Møller, RS, Desler, C & Tümer, Z 2023, 'Involvement of Mitochondrial Dysfunction in FOXG1 Syndrome', Genes, bind 14, nr. 2, 246. https://doi.org/10.3390/genes14020246

APA

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, 14(2), [246]. https://doi.org/10.3390/genes14020246

Vancouver

Bjerregaard VA, Levy AM, Batz MS, Salehi R, Hildonen M, Hammer TB o.a. Involvement of Mitochondrial Dysfunction in FOXG1 Syndrome. Genes. 2023;14(2). 246. https://doi.org/10.3390/genes14020246

Author

Bjerregaard, Victoria A. ; Levy, Amanda M. ; Batz, Mille S. ; Salehi, Ravina ; Hildonen, Mathis ; Hammer, Trine B. ; Møller, Rikke S. ; Desler, Claus ; Tümer, Zeynep. / Involvement of Mitochondrial Dysfunction in FOXG1 Syndrome. I: Genes. 2023 ; Bind 14, Nr. 2.

Bibtex

@article{08c69d3b637d444692e6646557a411be,
title = "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.",
keywords = "FOXG1 syndrome, mitochondrial dysfunction, mitochondrial homeostasis, mitochondrial morphology, mitochondrial respiratory capacity, neurodevelopmental disorders",
author = "Bjerregaard, {Victoria A.} and Levy, {Amanda M.} and Batz, {Mille S.} and Ravina Salehi and Mathis Hildonen and Hammer, {Trine B.} and M{\o}ller, {Rikke S.} and Claus Desler and Zeynep T{\"u}mer",
note = "Publisher Copyright: {\textcopyright} 2023 by the authors.",
year = "2023",
doi = "10.3390/genes14020246",
language = "English",
volume = "14",
journal = "Genes",
issn = "2073-4425",
publisher = "M D P I AG",
number = "2",

}

RIS

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