Mitochondrial Medicine: From Rare to Common Diseases

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 the 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 a “personalized mitochondrial medicine”, and to understand the molecular mechanisms that underlie the pathogenesis of these diseases. At the same time, investigations of 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
Prof. Serenella Servidei
Dr. Daria Diodato
Guest Editors

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. Life 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 2600 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 diseases
• mitochondrial genetics
• redox signaling and oxidative stress
• mitochondrial respiratory chain
• primary mitochondrial myopathies
• neurodegenerative diseases
• Parkinson’s disease
• amyotrophic lateral sclerosis