The Role of Mitochondria in Diseases

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

Deadline for manuscript submissions: closed (21 November 2021) | Viewed by 3934

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Centro Andaluz de Biología del Desarrollo, CABD-CSIC-Universidad Pablo de Olavide, 41013 Sevilla, Spain
Interests: rare diseases; mitochondrial diseases; lysosome diseases; neurodegeneration with brain iron accumulation; neurodevelopmental disorders; congenital myopathies; genetic susceptibility to cancer
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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

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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

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Published Papers (1 paper)

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Research

7 pages, 215 KiB  
Article
The m.9143T>C Variant: Recurrent Infections and Immunodeficiency as an Extension of the Phenotypic Spectrum in MT-ATP6 Mutations?
by Diana Lehmann Urban, Leila Motlagh Scholle, Matias Wagner, Albert C. Ludolph and Angela Rosenbohm
Diseases 2020, 8(2), 19; https://doi.org/10.3390/diseases8020019 - 9 Jun 2020
Cited by 1 | Viewed by 2935
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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