Special Issue "Mitochondrial Genetic Variation in Health and Disease"

A special issue of Biomolecules (ISSN 2218-273X).

Deadline for manuscript submissions: 20 April 2023 | Viewed by 403

Special Issue Editor

Dr. Jessica L. Fetterman
E-Mail Website
Guest Editor
Vascular Biology, Department of Medicine, Boston University School of Medicine, Boston, MA, USA
Interests: mitochondria; mitochondrial DNA; tobacco smoking; e-cigarettes; tobacco regulatory science; vascular endothelium

Special Issue Information

Dear Colleagues,

Mitochondria are central to cellular function, providing not only the ATP needed to sustain life, but also serving as central regulators of cellular phenotype. Oxidative phosphorylation is the mitochondrial process that generates energy for most cellular activities with alterations in oxidative phosphorylation driving changes in upstream metabolic pathways. The oxidative phosphorylation complexes are encoded by both the mitochondrial and nuclear genomes with the nuclear genome also encoding assembly factors and chaperones required for oxidative phosphorylation complex assembly.

Defects in mitochondrial genes result in a spectrum of diseases in humans, ranging from severe pediatric syndromes to aging-related diseases. Multiple copies of the mitochondrial genome are present within a mitochondrion; hence, hundreds to thousands of mitochondrial DNA copies exist per cell. Consequently, mitochondrial DNA copies carrying different mitochondrial variants may co-exist, a condition termed heteroplasmy. Prior technologies were unable to detect low-level, heteroplasmic mitochondrial DNA variants but advances in next-generation sequencing have provided new opportunities to advance our understanding of the contribution of mitochondrial genetic variation in health and disease. The goal of this Special Issue is to provide an overview of the current state of our understanding of mitochondrial genetic variation in health and disease and the opportunities and challenges provided by advances in next-generation sequencing, multiomics, gene editing techniques, and stem cell biology.

Dr. Jessica L. Fetterman
Guest Editor

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 submissions that pass pre-check are 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.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Biomolecules is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2100 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.


  • mitochondrial DNA
  • mitochondrial genes
  • mitochondrial mutations
  • mitochondrial variants
  • heteroplasmy
  • oxidative phosphorylation
  • mitochondrial disease

Published Papers

This special issue is now open for submission, see below for planned papers.

Planned Papers

The below list represents only planned manuscripts. Some of these manuscripts have not been received by the Editorial Office yet. Papers submitted to MDPI journals are subject to peer-review.

Title: Leigh Syndrome Global Patient Registry
Authors: Sophia Zilber; Kasey Woleben; Simon C. Johnson; Carolina Fischinger Moura de Souza; Danielle Boyce; Kevin Freiert; Joana Matos; Courtney Boggs; Souad Messahel; Melinda J. Burnworth; Titilola M. Afolabi; Saima Kayani 
Affiliation: 1. Cure Mito Foundation, Texas, USA
2. Center for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, Washington, USA
3. University of Washington, Seattle, Washington, USA
4. Medical Genetic Service, Hospital de Clinicas de Porto Alegre, Brazil
5. Department of Neurology, John Hopkins School of Medicine, Maryland, USA
6. Peter O’Donnell Jr. Brain Institute, University of Texas Southwestern Medical Center, Texas, USA
7. University of Texas Southwestern Medical Center, Texas, USA
8. Department of Pharmacy Practice, Midwestern University College of Pharmacy, Arizona, USA
9. Phoenix Children’s Hospital, Arizona, USA

Abstract: Leigh Syndrome (LS) Global Patient Registry was started by Cure Mito Foundation in September 2021 to meet the following goals: internationally available, identify and learn about LS patient population, consistently share results, enable clinical trial recruitment, and build a stronger patients and research community. The current paper represents data collected from the start of the registry until April 30, 2022. During this time, 182 patients have enrolled into the registry, with 116 patients from 25 countries included in the analysis. Patient registry and survey design and development, data analysis process, and patient recruitment strategies are described. Reported results include demographics, diagnostic information, history of symptoms, loss of milestones, disease management, healthcare utilization, quality of life, and caregiver burden. Results show a high burden of the disease, but a relatively short time to diagnosis. This registry provides a straightforward, no-cost mechanism for sharing clinical trials and research opportunities with patients which is important given the recruitment challenges for clinical trials for rare diseases. Support of the mitochondrial disease clinicians in sharing the registry with patients is critical. Additional future efforts include continued publication of data updates and further collaboration with patients, industry, and researchers.

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