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Gropman. J Transl Genet Genom 2021;5:62-3 Journal of Translational
DOI: 10.20517/jtgg.2020.54 Genetics and Genomics

Editorial Open Access

Mitochondrial medicine: the future is now

Andrea L. Gropman

Division of Neurogenetics and Neurodevelopmental Pediatrics, Children’s National Hospital and the George Washington
University School of Medicine and Health Sciences, Washington, DC 20010, USA.

Correspondence to: Dr. Andrea L. Gropman, Division of Neurogenetics and Neurodevelopmental Pediatrics, Children’s
National Hospital and the George Washington University School of Medicine and Health Sciences, 111 Michigan Avenue, N.W.,
Washington, DC 20010, USA. E-mail: agropman@childrensnational.org

How to cite this article: Gropman AL. Mitochondrial medicine: the future is now. J Transl Genet Genom 2021;5:62-3.
http://dx.doi.org/10.20517/jtgg.2020.54

Received: 8 Dec 2020 Accepted: 9 Dec 2020 Available online: 2 Jan 2021

Academic Editor: Sanjay Gupta Copy Editor: Cai-Hong Wang Production Editor: Jing Yu

The mitochondrial cytopathies are complex disorders that show phenotypic and genetic heterogeneity.
Over the last decade, advances in mitochondrial research has earned it a “seat at the table” and its own
specialty of medicine: “mitochondrial medicine”. Considered the “powerhouses of the cell” and the major
driver of cellular ATP, we can now appreciate the expanded role of the mitochondria in health and disease
[1,2]
as an evolving and multidisciplinary area of research . The scope of inherited and genetic mitochondrial
disorders ranges from infancy onset global disease to organ specific disorders in adults such as myopathy
[3]
and cardiac and liver disorders . Secondary mitochondrial dysfunction has also been shown to play a role
[4]
in many adult neurodegenerative conditions .
This Special Issue about mitochondrial medicine focuses on the complexities of clinical phenotypes,
diagnosis, genetics, genomics, and pharmacogenomics which may drive individualized and personalized
treatment. Although genomic testing is standard in terms of the clinical panels that are available, the field
is still expanding . Low heteroplasmy in accessible tissues and variants of unknown significance still
[5]
require functional studies to clarify their meaning and contribution to the phenotype and/or biochemical
[6]
alterations in patients .

In relation to disease, the emerging bioenergetic mitochondrial model suggests that mitochondrial defects
contribute to the development of age-, stage-, and stress-related diseases by altering complex cellular and
physiological functions .
[7]

© The Author(s) 2021. Open Access This article is licensed under a Creative Commons Attribution 4.0
International License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use,
sharing, adaptation, distribution and reproduction in any medium or format, for any purpose, even commercially, as long
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