Special Issue "The Role of Mitochondria in Diseases"

A special issue of Diseases (ISSN 2079-9721).

Deadline for manuscript submissions: 21 November 2021.

Special Issue Editor

Dr. Jose A. Sanchez-Alcazar
E-Mail Website
Guest Editor
Departamento de Fisiología, Anatomía y Biología Celular, Universidad Pablo de Olavide, Sevilla, Spain
Interests: mitophagy; apoptosis; rare diseases; mitochondrial diseases; lysosome diseases; neurodegeneration with brain iron accumulation
Special Issues and Collections in MDPI journals

Special Issue Information

Mitochondria are vital organelles for every nucleated cell as they generate energy by producing adenosine triphosphate (ATP) through the oxidative phosphorylation (OXPHOS) system. Therefore, these organelles are necessary for the energetic survival of cells without being dependent on anaerobic glycolysis. They are also important for several aspects of cell metabolism, since they regulate apoptosis, calcium homeostasis, and the response against oxidative stress, mainly caused by the mitochondrial production of reactive oxygen species (ROS).

The structure, organization, and functions of mitochondria are strongly interconnected and maintained by mitochondrial quality control through mitochondrial biogenesis, dynamics (fission and fusion), and mitophagy.

Mitochondria are involved in the pathogenesis and progression of numerous human diseases including neurodegenerative and cardiovascular diseases, diabetes, cancer, and inflammation.

This Special Issue of Diseases aims to draw attention to all aspects of mitochondrial metabolism and mitochondrial dysfunction in diseases. High-quality articles on mitochondrial biology as well as the roles of the mitochondria in disease and aging are welcome. The Special Issue is open to studies using both cell and animal models in human disease. We will also consider works detailing new methodologies and approaches for use in mitochondrial research.

We cordially invite scientists involved in basic research as well as in translational studies to submit their original research or review manuscripts to this Special Issue.

Dr. Jose A. Sanchez-Alcazar
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 papers will be 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. Diseases is an international peer-reviewed open access quarterly 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 1400 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

  • mitochondrial dynamics
  • mitochondrial antioxidant systems
  • mitochondrial quality control
  • mitochondria-targeted therapy
  • mitochondrial UPR; mitophagy
  • alteration of mitochondrial proteome
  • cancer
  • neurodegenerative diseases
  • mitochondrial diseases
  • diabetes

Published Papers (1 paper)

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Research

Article
The m.9143T>C Variant: Recurrent Infections and Immunodeficiency as an Extension of the Phenotypic Spectrum in MT-ATP6 Mutations?
Diseases 2020, 8(2), 19; https://0-doi-org.brum.beds.ac.uk/10.3390/diseases8020019 - 09 Jun 2020
Viewed by 1263
Abstract
Pathogenic variants in the MT-ATP6 are a well-known cause for maternally inherited mitochondrial disorders associated with a wide range of clinical phenotypes. Here, we present a 31- year old female with insulin-dependent diabetes mellitus, recurrent lactic acidosis and ketoacidosis recurrent infections with suspected [...] Read more.
Pathogenic variants in the MT-ATP6 are a well-known cause for maternally inherited mitochondrial disorders associated with a wide range of clinical phenotypes. Here, we present a 31- year old female with insulin-dependent diabetes mellitus, recurrent lactic acidosis and ketoacidosis recurrent infections with suspected immunodeficiency with T cell lymphopenia and hypogammaglobulinemia as well as proximal tetraparesis with severe muscle and limb pain and rapid physical exhaustion. Muscle biopsy and respiratory chain activities were normal. Single-exome sequencing revealed a variant in the MT-ATP6 gene: m.9143T>C. Analysis of further specimen of the index and mother (segregation studies) revealed the highest mutation load in muscle (99% level of mtDNA heteroplasmy) of the index patient. Interestingly, acute metabolic and physical decompensation during recurrent illness was documented to be a common clinical feature in patients with MT-ATP6 variants. However, it was not mentioned as a key symptom. Thus, we suggest that the clinical spectrum might be expanded in ATP6-associated diseases. Full article
(This article belongs to the Special Issue The Role of Mitochondria in Diseases)
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