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Mitochondria and Energy Metabolism Reprogramming in Diseases
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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: closed (20 April 2026) | Viewed by 6122

Special Issue Editor

Dr. Nadège Bellance

E-Mail Website
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

Manuscript Submission Information

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Keywords

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

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Published Papers (3 papers)

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Research

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17 pages, 5390 KB  
Article
A Late-Onset and Mild Phenotype of Mitochondrial Complex I Deficiency Due to a Novel Reported Variant Within the ACAD9 Gene
by Anna Gaelle Giguet-Valard, Samira Ait-El-Mkadem Saadi, Sophie Duclos, Didier Lacombe, Rémi Bellance and Nadège Bellance
Int. J. Mol. Sci. 2025, 26(15), 7128; https://doi.org/10.3390/ijms26157128 - 24 Jul 2025
Cited by 2 | Viewed by 1698
Abstract
Acyl-CoA dehydrogenase 9 deficiency is considered as a rare neuromuscular syndrome with an autosomal recessive transmission. The ACAD9 protein presents two essential functions, i.e., the limiting step enzyme of the fatty acid β-oxidation pathway and one of the complex’s compounds involved in the [...] Read more.
Acyl-CoA dehydrogenase 9 deficiency is considered as a rare neuromuscular syndrome with an autosomal recessive transmission. The ACAD9 protein presents two essential functions, i.e., the limiting step enzyme of the fatty acid β-oxidation pathway and one of the complex’s compounds involved in the respiratory chain complex I assembly. Thus, loss-of-function mutations are known to convey mitochondrial cytopathologies. A patient with a mild and late-onset phenotype, suffering from exercise intolerance and hypertrophic cardiomyopathy, was diagnosed as a compound heterozygote of the ACAD9 gene. The first c.1240C> T p.Arg414Cys variant has been previously reported and is known to be responsible for ACAD9 deficiency. However, the second c.1636G> A p.Val546Met variant has never been described. The goal was to investigate the eventual pathogenicity of this new genetic variant. For this purpose, molecular cloning was generated to express the ACAD9 gene with the V546M variant in a cell line (ACAD9mut) and compared to cells expressing the wild-type ACAD9. Then, the mitochondrial respiration, ATP production, the mitochondrial network, and the oxidative phosphorylation’s composition were investigated to reveal the effects of the V546M variant. While avoiding to affect the amount of the respiratory chain’s complexes, the new ACAD9 variant was entirely responsible for reducing over 50% of the mitochondrial complex I activity. Full article
(This article belongs to the Special Issue Mitochondria and Energy Metabolism Reprogramming in Diseases)
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25 pages, 2990 KB  
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
Cited by 1 | Viewed by 1629
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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18 pages, 1707 KB  
Hypothesis
An Alternative Metabolic Pathway of Glucose Oxidation Induced by Mitochondrial Complex I Inhibition: Serinogenesis and Folate Cycling
by Roman Abrosimov, Ankush Borlepawar, Parvana Hajieva and Bernd Moosmann
Int. J. Mol. Sci. 2025, 26(23), 11349; https://doi.org/10.3390/ijms262311349 - 24 Nov 2025
Viewed by 1978
Abstract
Inhibition of respiratory chain complex I (NADH dehydrogenase) is a widely encountered biochemical consequence of drug intoxication and a primary consequence of mtDNA mutations and other mitochondrial defects. In an organ-selective form, it is also deployed as antidiabetic pharmacological treatment. Complex I inhibition [...] Read more.
Inhibition of respiratory chain complex I (NADH dehydrogenase) is a widely encountered biochemical consequence of drug intoxication and a primary consequence of mtDNA mutations and other mitochondrial defects. In an organ-selective form, it is also deployed as antidiabetic pharmacological treatment. Complex I inhibition evokes a pronounced metabolic reprogramming of uncertain purposefulness, as in several cases, anabolism appears to be fostered in a state of bioenergetic shortage. A hallmark of complex I inhibition is the enhanced biosynthesis of serine, usually accompanied by an induction of folate-converting enzymes. Here, we have revisited the differential transcriptional induction of these metabolic pathways in three published models of selective complex I inhibition: MPP-treated neuronal cells, methionine-restricted rats, and patient fibroblasts harboring an NDUFS2 mutation. We find that in a coupled fashion, serinogenesis and circular folate cycling provide an unrecognized alternative pathway of complete glucose oxidation that is mostly dependent on NADP instead of the canonic NAD cofactor (NADP:NAD ≈ 2:1) and thus evades the shortage of oxidized NAD produced by complex I inhibition. In contrast, serine utilization for anabolic purposes and C1-folate provision for S-adenosyl-methionine production and transsulfuration cannot explain the observed transcriptional patterns, while C1-folate provision for purine biosynthesis did occur in some models, albeit not universally. We conclude that catabolic glucose oxidation to CO2, linked with NADPH production for indirect downstream respiration through fatty acid cycling, is the general purpose of the remarkably strong induction of serinogenesis after complex I inhibition. Full article
(This article belongs to the Special Issue Mitochondria and Energy Metabolism Reprogramming in Diseases)
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