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Special Issue "Mitochondrial DNA Mutations in Human Diseases"
Deadline for manuscript submissions: closed (15 October 2019).
Interests: mtDNA; mutations; human diseases; biochemistry; genetics and molecular biology; medicine
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
Manuscript Submission Information
Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.
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Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1800 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.
- human disease