Mitochondrial Medicine: From Physiology to Pathology

Dear Colleagues,

Mitochondria are essential intra-cellular dynamic organelles with a crucial role in metabolism and cellular homeostasis, hosting countless biochemical pathways and providing energy in the form of adenosine triphosphate (ATP) by the process of oxidative phosphorylation (OXPHOS).

In 1962, with an extraordinary example of translational investigation based on morphological, biochemical, and clinical evidence, Rolf Luft described the first patient affected by mitochondrial diseases, and in 1994, introduced the term “Mitochondrial Medicine”.

Almost 60 years after the first reported “mitochondrial patient”, the field of mitochondrial medicine is now experiencing rapid development. This is especially true in the field of genetic diagnostics thanks to the impact of next-generation sequencing technologies. Even if new molecular therapeutic strategies are available and recent developments in the reproductive options provide a possibility for preventing transmission of the mutation, there are currently no curative treatments available for the majority of patients with mitochondrial diseases. Furthermore, clinical care is tailored to the individual patient according to specific needs, with very few guidelines available for clinical management. Apart from primary respiratory chain diseases caused by genetic changes, recent advances in cell biology and genetics demonstrate that mitochondrial dysfunction is implicated in other rare neurological disorders (e.g., Charcot–Marie–Tooth disease, Friedreich’s ataxia, amyotrophic lateral sclerosis, Huntington’s disease) and in common human conditions and diseases such as aging, Alzheimer’s disease, Parkinson’s disease, obesity, diabetes, cardiovascular diseases, sarcopenia, and cancer.

This Special Issue aims to gather contributions of studies focused on the deep clinical and genetic characterization of cohorts of patients with primary mitochondrial diseases to provide relevant information for the standardization of the clinical care, allowing a move towards “personalized mitochondrial medicine”, and to understand the molecular mechanisms that underlie the pathogenesis of these diseases. At the same time, investigations into mitochondrial dysfunction in common and in other rare diseases can help to clarify the underlying pathophysiological mechanisms and identify new therapeutic perspectives. 

Dr. Guido Primiano
Dr. Serenella Servidei
Dr. Daria Diodato
Guest Editors

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