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Biomolecules
Special Issues
Molecular Diagnosis and Regulation of Mitochondrial Dysfunction
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Molecular Diagnosis and Regulation of Mitochondrial Dysfunction

A special issue of Biomolecules (ISSN 2218-273X). This special issue belongs to the section "Biological Factors".

Deadline for manuscript submissions: 30 April 2025 | Viewed by 6463

Special Issue Editor

Dr. Cecilia Giulivi

E-Mail Website
Guest Editor
Department of Molecular Biosciences, School of Veterinary Medicine, University of California Davis, Davis, CA, USA
Interests: mechanisms of mitochondrial dysfunction in autism, fragile X tremor and ataxia syndrome

Special Issue Information

Dear Colleagues,

The goal of the call for "Molecular Diagnosis and Regulation of Mitochondrial Dysfunction" is to promote and advance scientific research in understanding and addressing issues related to mitochondrial dysfunction, a critical area of study in the field of molecular biology and biochemistry. Mitochondria play a central role in energy production and various cellular processes, and their dysfunction is associated with a wide range of diseases, including neurodegenerative disorders, metabolic diseases and cancer. This call seeks to encourage researchers to investigate the molecular mechanisms underlying mitochondrial dysfunction and develop innovative approaches for its diagnosis and regulation. Ultimately, the aim is to contribute to the development of novel therapeutic strategies and diagnostic tools that can improve the quality of life for individuals affected by mitochondrial-related conditions.

Dr. Cecilia Giulivi
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Biomolecules is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2700 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • metabolic conditions
  • neurological conditions
  • genetic diseases
  • mitochondrial dysfunction
  • mitochondrial disorders
  • diagnostics
  • therapies

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Published Papers (2 papers)

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Research

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14 pages, 2642 KiB  
Article
Oxidative Phosphorylation as a Predictive Biomarker of Oxaliplatin Response in Colorectal Cancer
by Toni Martinez-Bernabe, Daniel G. Pons, Jordi Oliver and Jorge Sastre-Serra
Biomolecules 2024, 14(11), 1359; https://doi.org/10.3390/biom14111359 - 25 Oct 2024
Cited by 2 | Viewed by 1838
Abstract
Oxaliplatin is successfully used on advanced colorectal cancer to eradicate micro-metastasis, whereas its benefits in the early stages of colorectal cancer remains controversial since approximately 30% of patients experience unexpected relapses. Herein, we evaluate the efficacy of oxidative phosphorylation as a predictive biomarker [...] Read more.
Oxaliplatin is successfully used on advanced colorectal cancer to eradicate micro-metastasis, whereas its benefits in the early stages of colorectal cancer remains controversial since approximately 30% of patients experience unexpected relapses. Herein, we evaluate the efficacy of oxidative phosphorylation as a predictive biomarker of oxaliplatin response in colorectal cancer. We found that non-responding patients exhibit low oxidative phosphorylation activity, suggesting a poor prognosis. To reach this conclusion, we analyzed patient samples of individuals treated with oxaliplatin from the GSE83129 dataset, and a set of datasets validated using ROCplotter, selecting them based on their response to the drug. By analyzing multiple oxaliplatin-resistant and -sensitive cell lines, we identified oxidative phosphorylation KEGG pathways as a valuable predictive biomarker of oxaliplatin response with a high area under the curve (AUC = 0.843). Additionally, some oxidative phosphorylation-related biomarkers were validated in primary- and metastatic-derived tumorspheres, confirming the results obtained in silico. The low expression of these biomarkers is clinically relevant, indicating poor prognosis with decreased overall and relapse-free survival. This study proposes using oxidative phosphorylation-related protein expression levels as a predictor of responses to oxaliplatin-based treatments to prevent relapse and enable a more personalized therapy approach. Our results underscore the value of oxidative phosphorylation as a reliable marker for predicting the response to oxaliplatin treatment in colorectal cancer. Full article
(This article belongs to the Special Issue Molecular Diagnosis and Regulation of Mitochondrial Dysfunction)
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Review

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23 pages, 10754 KiB  
Review
Mitochondrial Dysfunction in Glycogen Storage Disorders (GSDs)
by Kumudesh Mishra and Or Kakhlon
Biomolecules 2024, 14(9), 1096; https://doi.org/10.3390/biom14091096 - 1 Sep 2024
Cited by 1 | Viewed by 4018
Abstract
Glycogen storage disorders (GSDs) are a group of inherited metabolic disorders characterized by defects in enzymes involved in glycogen metabolism. Deficiencies in enzymes responsible for glycogen breakdown and synthesis can impair mitochondrial function. For instance, in GSD type II (Pompe disease), acid alpha-glucosidase [...] Read more.
Glycogen storage disorders (GSDs) are a group of inherited metabolic disorders characterized by defects in enzymes involved in glycogen metabolism. Deficiencies in enzymes responsible for glycogen breakdown and synthesis can impair mitochondrial function. For instance, in GSD type II (Pompe disease), acid alpha-glucosidase deficiency leads to lysosomal glycogen accumulation, which secondarily impacts mitochondrial function through dysfunctional mitophagy, which disrupts mitochondrial quality control, generating oxidative stress. In GSD type III (Cori disease), the lack of the debranching enzyme causes glycogen accumulation and affects mitochondrial dynamics and biogenesis by disrupting the integrity of muscle fibers. Malfunctional glycogen metabolism can disrupt various cascades, thus causing mitochondrial and cell metabolic dysfunction through various mechanisms. These dysfunctions include altered mitochondrial morphology, impaired oxidative phosphorylation, increased production of reactive oxygen species (ROS), and defective mitophagy. The oxidative burden typical of GSDs compromises mitochondrial integrity and exacerbates the metabolic derangements observed in GSDs. The intertwining of mitochondrial dysfunction and GSDs underscores the complexity of these disorders and has significant clinical implications. GSD patients often present with multisystem manifestations, including hepatomegaly, hypoglycemia, and muscle weakness, which can be exacerbated by mitochondrial impairment. Moreover, mitochondrial dysfunction may contribute to the progression of GSD-related complications, such as cardiomyopathy and neurocognitive deficits. Targeting mitochondrial dysfunction thus represents a promising therapeutic avenue in GSDs. Potential strategies include antioxidants to mitigate oxidative stress, compounds that enhance mitochondrial biogenesis, and gene therapy to correct the underlying mitochondrial enzyme deficiencies. Mitochondrial dysfunction plays a critical role in the pathophysiology of GSDs. Recognizing and addressing this aspect can lead to more comprehensive and effective treatments, improving the quality of life of GSD patients. This review aims to elaborate on the intricate relationship between mitochondrial dysfunction and various types of GSDs. The review presents challenges and treatment options for several GSDs. Full article
(This article belongs to the Special Issue Molecular Diagnosis and Regulation of Mitochondrial Dysfunction)
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