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Down syndrome is an oxidative phosphorylation disorder
- Source :
- Redox Biol . 2021 May;41:101871, UCrea Repositorio Abierto de la Universidad de Cantabria, Universidad de Cantabria (UC), Redox Biology, Vol 41, Iss, Pp 101871-(2021), Redox Biology
- Publication Year :
- 2021
- Publisher :
- Elsevier, 2021.
-
Abstract
- Down syndrome is the most common genomic disorder of intellectual disability and is caused by trisomy of chromosome 21. Several genes in this chromosome repress mitochondrial biogenesis. The goal of this study was to evaluate whether early overexpression of these genes may cause a prenatal impairment of oxidative phosphorylation negatively affecting neurogenesis. Reduction in the mitochondrial energy production and a lower mitochondrial function have been reported in diverse tissues or cell types, and also at any age, including early fetuses, suggesting that a defect in oxidative phosphorylation is an early and general event in Down syndrome individuals. Moreover, many of the medical conditions associated with Down syndrome are also frequently found in patients with oxidative phosphorylation disease. Several drugs that enhance mitochondrial biogenesis are nowadays available and some of them have been already tested in mouse models of Down syndrome restoring neurogenesis and cognitive defects. Because neurogenesis relies on a correct mitochondrial function and critical periods of brain development occur mainly in the prenatal and early neonatal stages, therapeutic approaches intended to improve oxidative phosphorylation should be provided in these periods.<br />Graphical abstract Image 1<br />Highlights • Several chromosome 21-encoded proteins repress mitochondrial biogenesis. • These proteins are overexpressed in fetal brains of Down syndrome (DS) individuals. • Oxidative phosphorylation function is essential for neurogenesis. • Upregulation of these proteins adversely impact on neurogenesis. • Prenatal therapy with drugs inhibiting these proteins would increase DS neurogenesis.
- Subjects :
- 0301 basic medicine
Down syndrome
Cell type
Medicine (General)
QH301-705.5
Neurogenesis
Clinical Biochemistry
Oxidative phosphorylation
Biology
Bioinformatics
Biochemistry
Hypothesis Paper
Mitochondrial biogénesis
Mice
03 medical and health sciences
0302 clinical medicine
R5-920
Mitochondrial biogenesis
Intellectual disability
medicine
Animals
Humans
Biology (General)
Organic Chemistry
Infant, Newborn
medicine.disease
Down síndrome
Brain development
Mitochondria
Disease Models, Animal
030104 developmental biology
Chromosome 21
Trisomy
030217 neurology & neurosurgery
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Journal :
- Redox Biol . 2021 May;41:101871, UCrea Repositorio Abierto de la Universidad de Cantabria, Universidad de Cantabria (UC), Redox Biology, Vol 41, Iss, Pp 101871-(2021), Redox Biology
- Accession number :
- edsair.doi.dedup.....1eba4f46fa5f1a736936d9612112e577