Mitochondrial Genetics and Pathologies

Dear Colleagues,

Mitochondria are known as the powerhouse of the cell by producing ATP through oxidative phosphorylation. Mitochondria are surrounded by double layered membranes, and harbor many other metabolic pathways, such as β-oxidation, synthesis of amino acids, cholesterol and Fe-S clusters, ROS-mediated signaling and intracellular calcium homeostasis, among many. Furthermore, mitochondria regulate numerous physiological processes, such as autophagy, apoptosis, stress response, aging, oncogenesis, and myogenesis.

Mitochondria have its own genome that encode several key proteins of the oxidative phosphorylation complexes. However, the vast majority of functioning proteins located inside the mitochondria are synthesized in the cytosol followed by translocate into the mitochondria. Various mutation/deletion, including SNPs, in human mitochondrial DNA leads to severe defects of cellular respiration that causes many diseases, including muscular or neurodegenerative, called “mtDNA diseases”. Mutations in nuclear genes that encode mitochondrial proteins or factors involved in mitochondrial dynamics, can also be associated with mitochondrial dysfunctions and common diseases, such as cancer, cardiovascular disorders, diabetes, amyotrophic lateral sclerosis, Alzheimer's and Parkinson's disease.

This exciting and novel topic aims to bring together studies on various disorders associated with mitochondrial dysfunctions that may expand our knowledge of the role of mitochondria and aid in the development of potential therapeutic strategies.

The scope of the journal includes, but is not limited to:

• Gene regulation at the transcriptional and posttranscriptional levels.
• Mitochondrial DNA mutation/deletion/SNPs in human diseases.
• Mitochondrial genome editing technologies.
• Mitochondrial RNA biology.
• Mitochondrial non-coding RNA and human diseases.
• Mitochondrial epigenetics and human diseases.
• Mitochondrial gene therapy.
• RNA interference.
• Drug development.

Dr. Nina Entelis
Dr. Samirjit Das
Guest Editors

Manuscript Submission Information

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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 2600 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 mitochondria
• mtDNA
• pathogenic mutations
• mitochondrial dysfunctions
• mitochondrial diseases