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Life
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Mitochondrial Medicine: From Rare to Common Diseases
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Mitochondrial Medicine: From Rare to Common Diseases

A special issue of Life (ISSN 2075-1729). This special issue belongs to the section "Medical Research".

Deadline for manuscript submissions: closed (13 May 2022) | Viewed by 8503

Special Issue Editors

Dr. Guido Primiano

E-Mail Website
Guest Editor
1. Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy
2. Dipartimento di Neuroscienze, Università Cattolica del Sacro Cuore, 00168 Rome, Italy
Interests: neurogenetics; neurological diseases; neurodegeneration; clinical neurophysiology; neuromuscular disorders
Special Issues, Collections and Topics in MDPI journals
Dr. Serenella Servidei

E-Mail Website
Guest Editor
1. Neurophysiopathology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy
2. Dipartimento Universitario di Neuroscienze, Università Cattolica del Sacro Cuore, Rome, Italy
Interests: neuromuscular disorders; mitochondrial diseases; mitochondrial genetics; muscular dystrophies
Special Issues, Collections and Topics in MDPI journals
Dr. Daria Diodato

E-Mail Website
Guest Editor
Unit of Muscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
Interests: mitochondrial diseases; mitochondrial genetics; neuromuscular disorders; neurogenetics; energy metabolism
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

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.

Keywords

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

Published Papers (3 papers)

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Research

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14 pages, 2233 KiB  
Article
Tunicamycin-Induced Endoplasmic Reticulum Stress Damages Complex I in Cardiac Mitochondria
by Qun Chen, Jeremy Thompson, Ying Hu and Edward J. Lesnefsky
Life 2022, 12(8), 1209; https://doi.org/10.3390/life12081209 - 9 Aug 2022
Cited by 2 | Viewed by 1642
Abstract
Background: Induction of acute ER (endoplasmic reticulum) stress using thapsigargin contributes to complex I damage in mouse hearts. Thapsigargin impairs complex I by increasing mitochondrial calcium through inhibition of Ca2+-ATPase in the ER. Tunicamycin (TUNI) is used to induce ER stress [...] Read more.
Background: Induction of acute ER (endoplasmic reticulum) stress using thapsigargin contributes to complex I damage in mouse hearts. Thapsigargin impairs complex I by increasing mitochondrial calcium through inhibition of Ca2+-ATPase in the ER. Tunicamycin (TUNI) is used to induce ER stress by inhibiting protein folding. We asked if TUNI-induced ER stress led to complex I damage. Methods: TUNI (0.4 mg/kg) was used to induce ER stress in C57BL/6 mice. Cardiac mitochondria were isolated after 24 or 72 h following TUNI treatment for mitochondrial functional analysis. Results: ER stress was only increased in mice following 72 h of TUNI treatment. TUNI treatment decreased oxidative phosphorylation with complex I substrates compared to vehicle with a decrease in complex I activity. The contents of complex I subunits including NBUPL and NDUFS7 were decreased in TUNI-treated mice. TUNI treatment activated both cytosolic and mitochondrial calpain 1. Our results indicate that TUNI-induced ER stress damages complex I through degradation of its subunits including NDUFS7. Conclusion: Induction of the ER stress using TUNI contributes to complex I damage by activating calpain 1. Full article
(This article belongs to the Special Issue Mitochondrial Medicine: From Rare to Common Diseases)
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6 pages, 3133 KiB  
Communication
Spinal Cord Involvement in Adult Mitochondrial Diseases: A Cohort Study
by Guido Primiano, Paolo Mariotti, Ida Turrini, Cristina Sancricca, Andrea Sabino, Alessandra Torraco, Rosalba Carrozzo and Serenella Servidei
Life 2022, 12(1), 5; https://doi.org/10.3390/life12010005 - 21 Dec 2021
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Abstract
The central nervous system is metabolically very demanding and consequently vulnerable to defects of the mitochondrial respiratory chain. While the clinical manifestations and the corresponding radiological findings of the brain involvement in mitochondrial diseases (e.g., stroke-like episodes, signal changes of the basal ganglia, [...] Read more.
The central nervous system is metabolically very demanding and consequently vulnerable to defects of the mitochondrial respiratory chain. While the clinical manifestations and the corresponding radiological findings of the brain involvement in mitochondrial diseases (e.g., stroke-like episodes, signal changes of the basal ganglia, cerebral and cerebellar atrophy) are well known, at present there are few data on the spinal-cord abnormalities in these pathologies, in particular in adult subjects. In this study, we present a cross-sectional cohort study on the prevalence and characterization of spinal-cord involvement in adult patients with genetically defined mitochondrial diseases. Full article
(This article belongs to the Special Issue Mitochondrial Medicine: From Rare to Common Diseases)
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Review

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56 pages, 2644 KiB  
Review
Mitochondria and Their Relationship with Common Genetic Abnormalities in Hematologic Malignancies
by Ibolya Czegle, Austin L. Gray, Minjing Wang, Yan Liu, Jun Wang and Edina A. Wappler-Guzzetta
Life 2021, 11(12), 1351; https://doi.org/10.3390/life11121351 - 7 Dec 2021
Cited by 1 | Viewed by 3731
Abstract
Hematologic malignancies are known to be associated with numerous cytogenetic and molecular genetic changes. In addition to morphology, immunophenotype, cytochemistry and clinical characteristics, these genetic alterations are typically required to diagnose myeloid, lymphoid, and plasma cell neoplasms. According to the current World Health [...] Read more.
Hematologic malignancies are known to be associated with numerous cytogenetic and molecular genetic changes. In addition to morphology, immunophenotype, cytochemistry and clinical characteristics, these genetic alterations are typically required to diagnose myeloid, lymphoid, and plasma cell neoplasms. According to the current World Health Organization (WHO) Classification of Tumors of Hematopoietic and Lymphoid Tissues, numerous genetic changes are highlighted, often defining a distinct subtype of a disease, or providing prognostic information. This review highlights how these molecular changes can alter mitochondrial bioenergetics, cell death pathways, mitochondrial dynamics and potentially be related to mitochondrial genetic changes. A better understanding of these processes emphasizes potential novel therapies. Full article
(This article belongs to the Special Issue Mitochondrial Medicine: From Rare to Common Diseases)
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