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Mitochondria and Energy Metabolism Reprogramming in Diseases

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: 20 September 2025 | Viewed by 582

Special Issue Editor


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Guest Editor
INSERM U1211, Rare Diseases: Genetic and Metabolism, F-33076 Bordeaux, France
Interests: mitochondria; bioenergetics; metabolic remodeling; signaling pathways
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Mitochondrial dysfunctions intervene in multiple pathologies because of mitochondria’s role in energy production and its involvement in various signaling pathways. Moreover metabolic alterations were reported in cytopathology of mitochondrial diseases, cancer, infections and even neurodegenerative diseases. Despite the different tissues affected, pathophysiological mechanisms are continuously being deciphered, allowing us to increase our knowledge on the physiology of this organelle and highlighting specific therapeutic targets related.

In this Special Issue entitled “Mitochondria and Energy Metabolism Reprogramming in Diseases”, the latest alterations regarding mitochondrial functions are reported and discussed. The purpose consists in bringing new insights on mitochondrial altered functions, and metabolic remodeling on diseases with a mitochondrial implication.

Dr. Nadège Bellance
Guest Editor

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Keywords

  • mitochondrial dysfunctions
  • energy metabolism
  • pathophysiological mechanisms
  • therapeutic targets
  • physiology of organelle

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Published Papers (1 paper)

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Research

25 pages, 2990 KiB  
Article
Can the Supplementation of Oocytes with Extra Copies of mtDNA Impact Development Without Being Transmitted? A Molecular Account
by Justin C. St. John, Eryk Andreas and Alexander Penn
Int. J. Mol. Sci. 2025, 26(6), 2746; https://doi.org/10.3390/ijms26062746 - 18 Mar 2025
Viewed by 336
Abstract
The introduction of extra copies of mitochondrial DNA (mtDNA), whether autologous or heterologous, into oocytes at the time of fertilisation or through other assisted reproductive technologies, such as nuclear transfer, is a contentious issue. The primary focus has been on whether third-party mtDNA [...] Read more.
The introduction of extra copies of mitochondrial DNA (mtDNA), whether autologous or heterologous, into oocytes at the time of fertilisation or through other assisted reproductive technologies, such as nuclear transfer, is a contentious issue. The primary focus has been on whether third-party mtDNA is transmitted to the offspring and if it impacts offspring health and well-being. However, little attention has focused on whether the introduction of extra copies of mtDNA will interfere with the balance established between the nuclear and mitochondrial genomes during oogenesis and as the developing embryo establishes its own epigenetic imprint that will influence mature offspring. Whilst we determined that sexually mature offspring generated through mtDNA supplementation did not inherit any-third party mtDNA, they exhibited differences in gene expression from three tissues derived from three separate embryonic lineages. This resulted in a number of pathways being affected. In each case, the differences were greater in the heterologous and autologous comparison than when comparing all supplemented offspring against non-supplemented offspring. Many of the changes in gene expression were coupled to differential DNA methylation across tissues, some of which were tissue-specific, with high levels observed in the heterologous against autologous comparison. An analysis of DNA methylation in blastocyst-stage embryos pointed to changes in patterns of DNA methylation that were transmitted through to the offspring. Our results indicated that extra copies of mtDNA may not be transmitted if introduced at low levels, but the changes induced by supplementation that occur in DNA methylation and gene expression in the blastocyst have a profound effect on tissues. Full article
(This article belongs to the Special Issue Mitochondria and Energy Metabolism Reprogramming in Diseases)
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