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Special Issue "Mitochondrial Dysfunction in Aging and Diseases Affecting the Neuromuscular System"

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Biochemistry".

Deadline for manuscript submissions: 31 December 2023 | Viewed by 640

Special Issue Editor

Department of Biomedical and Biotechnological Sciences, University of Catania, Via Santa Sofia 97, 95123 Catania, Italy
Interests: neuroscience; neural plasticity; amyotrophic lateral sclerosis; motoneuron; regenerative medicine

Special Issue Information

Dear Colleagues,

Mitochondria are fundamental organelles of eukaryotic cells. In addition to being classically considered as the energy centers producing ATP for cell activities, mitochondria are involved in a large plethora of cell functions and, consequently, also in a large number of diseases. Oxidation of metabolites and ATP production, as well as calcium buffering, production of reactive oxygen species, apoptosis, and proteostasis, are among the numerous processes involving mitochondria and affecting cellular homeostasis. Mitochondrial functions are regulated in a complex manner, by controlling the number, morphology, and size of mitochondria, as well as their subcellular localization. These organelles are characterized by high plasticity, but they are also highly sensitive to aging and environmental insults that can induce mitochondrial dysfunctions and ultimately lead to disruptions of cellular homeostasis and disease. Due to their high energy requirement, neurons and skeletal myocytes are among the cell types with higher vulnerability to mitochondrial dysregulation. A large amount of experimental evidence has shown that a number of muscular and neurodegenerative diseases are characterized by alterations of mitochondrial fitness, including amyotrophic lateral sclerosis, spinal muscular atrophy, myasthenia gravis, muscular dystrophy, sarcopenia, as well as other diseases affecting the neuromuscular system, with aging-related, inflammatory, genetic or vascular origin. In this Special Issue, we would like to collect recent evidence concerning the involvement of mitochondrial physiology in the neuromuscular system, as well as studies focusing to the role of mitochondrial dysfunctions as disease mechanisms or therapeutic targets. Original articles, comprehensive reviews, systematic reviews with meta-analysis, or perspective articles are welcome.

Dr. Rosario Gulino
Guest Editor

Manuscript Submission Information

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  • mitochondrial physiology

  • mitochondria in ALS
  • mitochondria in SMA
  • mitochondria in neuroinflammation
  • mitochondria in muscular dystrophy
  • mitochondria in sarcopenia
  • mitochondria in myasthenia gravis
  • mitochondria in muscle physiology
  • mitochondria and motoneurons
  • mitochondria and therapy

Published Papers (1 paper)

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Pathophysiology of Cerebellar Degeneration in Mitochondrial Disorders: Insights from the Harlequin Mouse
Int. J. Mol. Sci. 2023, 24(13), 10973; https://doi.org/10.3390/ijms241310973 - 30 Jun 2023
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By means of a proteomic approach, we assessed the pathways involved in cerebellar neurodegeneration in a mouse model (Harlequin, Hq) of mitochondrial disorder. A differential proteomic profile study (iTRAQ) was performed in cerebellum homogenates of male Hq and wild-type (WT) mice [...] Read more.
By means of a proteomic approach, we assessed the pathways involved in cerebellar neurodegeneration in a mouse model (Harlequin, Hq) of mitochondrial disorder. A differential proteomic profile study (iTRAQ) was performed in cerebellum homogenates of male Hq and wild-type (WT) mice 8 weeks after the onset of clear symptoms of ataxia in the Hq mice (aged 5.2 ± 0.2 and 5.3 ± 0.1 months for WT and Hq, respectively), followed by a biochemical validation of the most relevant changes. Additional groups of 2-, 3- and 6-month-old WT and Hq mice were analyzed to assess the disease progression on the proteins altered in the proteomic study. The proteomic analysis showed that beyond the expected deregulation of oxidative phosphorylation, the cerebellum of Hq mice showed a marked astroglial activation together with alterations in Ca2+ homeostasis and neurotransmission, with an up- and downregulation of GABAergic and glutamatergic neurotransmission, respectively, and the downregulation of cerebellar “long-term depression”, a synaptic plasticity phenomenon that is a major player in the error-driven learning that occurs in the cerebellar cortex. Our study provides novel insights into the mechanisms associated with cerebellar degeneration in the Hq mouse model, including a complex deregulation of neuroinflammation, oxidative phosphorylation and glutamate, GABA and amino acids’ metabolism Full article
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