Mitochondrial Diseases: Pathophysiological Mechanisms and Treatment Strategies
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: closed (29 November 2023) | Viewed by 416
Special Issue Editors
Interests: mitochondrial genetics; neurodegeneration; mitochondrial biogenesis; mitochondrial dynamics; inter-organellar crosstalk; DAMPs; mito-inflammation; biomarkers
Interests: mitochondrial dynamics; mitochondrial energetics; mtDNA maintenance; mitochondrial biogenesis; mitochondrial diseases; OPA1; neurodegeneration
Special Issue Information
Dear Colleagues,
Mitochondrial diseases are genetically determined metabolic disorders caused by mutations affecting genes encoded by either mitochondrial DNA (mtDNA) or nuclear DNA. Although individually rare, when considered as a whole, mitochondrial diseases are among the most frequent genetic disorders in humans. Since the first discoveries of human pathologies linked to mtDNA defects occurred in 1988, the field of mitochondrial medicine has exponentially expanded. In the last 30 years, new clinical phenotypes, as well as novel genetic defects associated with mitochondrial dysfunction, have been described. Coherently, the landscape of pathogenic mechanisms is impressively enlarged, starting from the classical oxidative phosphorylation dysfunction and now including mtDNA maintenance, oxidative stress, cell death, mitochondrial turnover, mitochondrial dynamics, interactions with the endoplasmic reticulum, calcium handling, mito-inflammation, lipid metabolism and other metabolic pathways that occur within mitochondria or related to these organelles. Therapy for these diseases is challenging and, to date, it is still primarily focused on treating specific clinical manifestations. Indeed, both genetic and clinical variability makes hard to develop therapeutic approaches that can be effective for all patients. Moreover, gene therapy for mtDNA-related diseases is limited, since it is not possible to introduce nucleic acids into mitochondria. Despite this, in recent years significant advances have been made, both as pharmacological approaches targeting different mitochondrial pathophysiological processes (i.e., biogenesis and mitophagy, OXPHOS functioning, mitochondrial nucleotides pool, the mammalian Target Of Rapamycin Complex pathway, lipid membranes composition, etc.) and as gene therapy. The latter has also evolved for mtDNA, and now includes mitochondria-targeted nucleases for heteroplasmic mtDNA defects and, very recently developed, base editors that are promising therapeutic approaches for homoplasmic mtDNA mutations. This Special Issue on “Mitochondrial Diseases: Pathophysiological Mechanisms and Treatment Strategies” aims to collect original research and review articles dedicated to the landscape of mitochondrial dysfunction leading to disease and possible therapeutic approaches for mitochondrial diseases.
Dr. Alessandra Maresca
Dr. Valentina Del Dotto
Guest Editors
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Keywords
- mitochondrial medicine
- nuclear and mitochondrial DNA gene editing
- oxidative phosphorylation (OXPHOS) dysfunction
- mitochondrial turnover
- in vitro and in vivo models for mitochondrial diseases
- mitochondrial DAMPs and mito-inflammation
- mitochondrial DNA maintenance
- mitochondrial trafficking
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