Inflammation and Metabolic Response in Mitochondrial 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: 28 February 2025 | Viewed by 83
Special Issue Editor
Interests: neurogenetics; neurological diseases; neurodegeneration; clinical neurophysiology; neuromuscular disorders
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Mitochondria are dynamic and complex subcellular organelles with a key role in a multitude of cellular processes. In addition to the well-known function of generating energy through the production of ATP via the tricarboxylic acid (TCA) cycle and oxidative phosphorylation (OxPhos), other mitochondria-related roles include calcium homoeostasis, cellular stress response, regulation of apoptotic cell death, sulfur metabolism, cytosolic protein degradation, and immune activity. Primary mitochondrial dysfunction translates clinically into a heterogeneous group of inherited disorders termed mitochondrial diseases (MDs), which involve tissues that are heavily energy dependent and often manifest isolated neuromuscular symptoms or, more commonly, in association with multisystem involvement. MDs represent the most common group of inborn errors of metabolism, characterized by extraordinary phenotypic variability due to the potential involvement of any organ or tissue and the dual genetic control with nuclear genome (nDNA) and mitochondrial DNA (mtDNA) working in concert. These distinctive features make these disorders a challenge for the clinician and are responsible for frequent diagnostic odysseys. While enormous progress has been made in the genetic characterization of MDs, similarly significant results have not been obtained in the deep understanding of the pathogenetic mechanisms. This Special Issue aims to collect scientific contributions capable of shedding light on the metabolic remodeling of different tissues (e.g., skeletal muscle, liver, and adipose tissue) in patients with MDs. At the same time, contributions related to another important emerging chapter of primary mitochondrial dysfunction, consisting in the role of inflammation and regulation of immune activity, will be taken into consideration. The investigation of this aspect could contribute to the understanding of the complex pathogenic mechanisms and to the identification of new therapeutic approaches.
In this Special Issue, we are looking for original research articles and state-of-the-art reviews that address these two specific aspects of MDs, inflammation and metabolic remodeling, and contribute significantly to the field of mitochondrial medicine.
Dr. Guido Primiano
Guest Editor
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Keywords
- mitochondrial diseases
- mitochondria
- mtDNA
- metabolic remodeling
- inflammation
- immunity
- cell death
- neurodegenration
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