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Topic: Genetics and Genomics of Mitochondrial Disorders

A special issue of Journal of Translational Genetics and Genomics

ISSN 2578-5281 (Online)

Submission deadline: 28 Feb 2023

Guest Editor(s)

  • Dr. Andrea Stoccoro

    Department of Translational Research and of New Surgical and Medical Technologies, Medical School, University of Pisa, Pisa, Italy.

    Website | E-mail

  • Dr. Chiara Villa

    School of Medicine and Surgery, University of Milano-Bicocca, Monza, Italy.

    Website | E-mail

Special Issue Introduction

Mitochondrial diseases are complex disorders characterized by high phenotypic and genetic heterogeneity. Mitochondrial diseases are primarily caused by the dysfunction of the oxidative phosphorylation (OXPHOS) activity or integral mitochondrial functions, following genetic mutations in both the mitochondrial and the nuclear genome. Mitochondrial disorders range from infancy onset multi-systemic diseases to organ-specific disorders in adults, such as myopathy and cardiac and liver disorders, as well as neurodegenerative conditions. In recent years several technological advances have been made in understanding the etiology of these diseases, and a new branch of research called "mitochondrial medicine" has been developed. However, the genetic etiology of a significant number of patients with symptoms clearly related to mitochondrial disorders remains unknown, highlighting the need to improve methodologies to detect and interpret new genetic and genomic variants. Moreover, a better understanding of the genetic and genomic causes of these diseases also has therapeutical implications, as the growing number of pre-clinical and clinical trials over the last years show that gene therapy is a viable precision medicine intervention for treating mitochondrial diseases. The constant iteration and innovation of new technologies is always something to look forward to, and it also allows doctors to face and overcome some new challenges, so JTGG plans to launch this special issue to discuss topics including but not limited to:

Keywords or key topics of the SI:
1. Mitochondrial dysfunctions and dynamics in chronic diseases
2. Mitochondrial genome
3. Nuclear-encoded mitochondrial disorders
4. Mitochondria transplantation and transfer
5. Mitochondrial gene expression
6. Next-generation sequencing
7. Gene arrangement
8. Gene therapy
9. Eukaryote phylogeny and evolution
10. DNA barcoding

Submission Deadline

28 Feb 2023

Submission Information

Articles of special issue are free of charge for article processing.
For Author Instructions, please refer to
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Submission Deadline: 28 Feb 2023
Contacts: Jixiang Zhao, Assistant Editor,

Published Articles

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