Mitochondria and Energy Metabolism in Rare Diseases

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

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