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Special Issue "Mitochondria and Energy Metabolism in Rare Diseases"

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: 31 January 2022.

Special Issue Editor

Dr. Nadège Bellance
E-Mail Website
Guest Editor
INSERM U1211, Rare Diseases: Genetic and Metabolism, F-33076 Bordeaux, France
Interests: mitochondria; bioenergetics; metabolic remodeling; signaling pathways

Special Issue Information

Dear Colleagues,

Rare diseases are a wide class of pathologies that can affect multiples organs of patients. Genetic mutations are responsible for these diseases. Interestingly, metabolic alterations have been reported in most of these pathologies, such as spastic paraplegias, ataxias, and other neurodegenerative diseases. Furthermore, mitochondrial dysfunctions play a role in the pathophysiological mechanisms described. In a few cases, cells adopt remodeling that induces mitochondrial upregulation or even biogenesis. On the other hand, the adaptive processes are not ubiquitous. Impairments in mitophagy have also been revealed in neurodegeneration. In this Special Issue entitled “Mitochondria and Energy Metabolism in Rare Diseases”, the various alterations in mitochondrial functions are discussed and reported. The purpose of this Special Issue focused on rare diseases is to answer the chicken-or-egg question of what came first, mitochondrial upregulation or degradation. 

Dr. Nadège Bellance
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 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.

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. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. 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.


  • mitochondria
  • energy metabolism
  • autophagy
  • mitophagy
  • neurodegeneration
  • metabolic pathways
  • signaling pathway
  • traffic
  • reactive oxygen species
  • rare diseases

Published Papers

This special issue is now open for submission.
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