Fetal and obstetrics manifestations of mitochondrial diseases

Journal of Translational Medicine, Journal Year: 2024, Volume and Issue: 22(1)

Published: Sept. 23, 2024

Abstract During embryonic and neonatal development, mitochondria have essential effects on metabolic energetic regulation, shaping cell fate decisions leading to significant short- long-term offspring health. Therefore, perturbation mitochondrial function can a pathological effect pregnancy. Several shreds of evidence collected in preclinical models revealed that severe dysfunction is incompatible with life or leads critical developmental defects, highlighting the importance correct during embryo-fetal development. The mechanism impairing development unknown may include dysfunctional switch differentiating cells due decreased ATP production altered apoptotic signalling. Given central role fetal typical Mitochondrial Diseases (MDs) should, principle, be detectable However, little known about clinical manifestations MDs In this manuscript, we review suggesting affect highlight maternal outcomes provide wake-up call for targeted genetic diagnosis.

Language: Английский

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Embryonic development grand challenge: crosslinking advances

Frontiers in Cell and Developmental Biology, Journal Year: 2024, Volume and Issue: 12

Published: Sept. 19, 2024

Research on embryonic development is entering into a new era. As traditionally descriptive discipline within anatomy, embryologists have formed international consortia and digitized important histological collections for preservation open access. Embryonic has recently received wider attention in context with temporo-spatial transcriptomics at single cell level. These can be expected to fuel the realization of transdisciplinary significance efforts decipher development. Addressing its complexities encompasses wealth challenges that intersect across domains science, society, politics underlining outstanding importance as well inherently interdisciplinary nature. The this field are by no means confined understanding intricate biological mechanisms but also humanitarian implications. To fully appreciate underlying human development, principles embryogenesis predominantly been analyzed employing animal models which allow us broaden our view developmental processes. result recent pioneering work technical progress centered around stem cell-based 3D approaches, we historical phase learning about mammalian In vertebrates, growing concern now focuses reduction experimentation. This perspective article outlines major amazing offer an enormous potential basic biomedical sciences related translational approaches if they tackled multidisciplinary discourse.

Language: Английский

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Disease susceptibility implications of preferential inactivation of the paternal X chromosome in extraembryonic endoderm of the mouse

Developmental Biology, Journal Year: 2024, Volume and Issue: unknown

Published: Nov. 1, 2024

Language: Английский

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