Mitochondrial DNA Mutations in Human Diseases
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".
Deadline for manuscript submissions: closed (15 October 2019) | Viewed by 7054
Special Issue Editor
Interests: cancer; biomarkers; mitochondria; target drugs; clinical chemistry; laboratory medicine
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Classically, DNA mutations have been considered responsible for a heterogeneous group of inherited mitochondrial diseases, thus limiting their role in human pathophysiology. At present, mitochondria are far more than the “powerhouse” of the cell as they have classically been described.
In fact, mitochondria biological activities have progressively expanded to include not only various bioenergetic processes but also important biosynthetic pathways, calcium homeostasis and thermogenesis, cell death by apoptosis, several different signal transduction pathways mainly related to the redox control of gene expression, and so on. This functional and structural complexity may undergo important derangements to justify the definition of ‘mitochondrial medicine’, which should include all the clinical consequences of congenital or acquired mitochondrial dysfunctions. There are actually a growing number of studies that assign a significant pathogenic role to damaged mitochondria in different diseases: ischemia/reperfusion injury; neurodegenerative diseases; metabolic syndrome; hyperlipidemias; and, above all, cancer, just to mention a few of the most important pathologies.
In this context, a further aspect that should not be disregarded is the interaction of pharmacological agents with mitochondria, not only in regard to their toxicological aspects but, above all, to their potential therapeutic applications. In fact, it is interesting to note that, while the properties of different so-called “mitoxicants” are well-known from physical, chemical, and biochemical points of view, the often-subtle linkages between drugs and mitochondria is still in need of real pharmacological and therapeutic control at the clinical level.
In this setting, inherited or spontaneous mutations in mtDNA have a fundamental and too-often-neglected role. This lack of consideration often leads to an underestimation of the pathophysiological role of mitochondrial DNA mutations in various human diseases, with important clinical implications in terms of diagnosis and therapy.
We cordially invite researchers working actively in these fields to submit their original research or review manuscripts to this Special Issue on Mitochondrial DNA Mutations in Human Diseases.
Prof. Roberto Scatena
Guest Editor
Manuscript Submission Information
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Keywords
- mtDNA
- mutations
- mitochondria
- human disease
- therapies
