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Transcriptome of E17 embryo with mutation in ADCK2 and rescue of muscle alteration by prenatal CoQ10 treatment.

ABSTRACT: A transcriptomic study was performed on muscle, liver and brain a group of 3 embryos with a mutation in ADCK2 gene (controls being wild-type embryos from the same litter). Haploinsufficiency of ADCK2 leads to reduced mitochondrial coenzyme Q (CoQ) levels in skeletal muscle, resulting in mitochondrial myopathy, alterations in fatty acid beta-oxidation and physical incapacity in both humans and mice at adult stage (PMID: 31480808). Adck2 heterozygous mice exhibit defects from the embryonic development stage, particularly in skeletal muscle. Prenatal administration of CoQ10 can mitigate the defects observed during embryonic development. Ablation of Adck2 affects postnatal myogenesis, with more severe consequences in older mice. Consequently, heterozygous Adck2 mice display accelerated muscle wasting associated with ageing. Prenatal administration of CoQ10 can prevent these defects.

ORGANISM(S): Mus musculus

PROVIDER: GSE253654 | GEO | 2024/12/19

REPOSITORIES: GEO

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