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Mitochondrial DNA and RNA in Human Disease
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Mitochondrial DNA and RNA in Human Disease

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: closed (31 May 2022) | Viewed by 15193

Special Issue Editor

Dr. Maria Simarro Grande

E-Mail Website
Guest Editor
Department of Nursing, University of Valladolid, 47005 Valladolid, Spain
Interests: mitochondria; innate immunity; macrophages; bacterial infection and sepsis; FASTK proteins

Special Issue Information

Dear Colleagues,

A greater understanding of the mechanisms of mtDNA expression is clearly necessary to unravel the complex role of mitochondria in human disease and aging. In humans, mtDNA is a circular 16.6 kb that encodes a small subset of proteins required for efficient oxidative phosphorylation activity. Many mutations in mtDNA that affect the expression of mitochondria-encoded oxidative phosphorylation components are associated with human pathologies, collectively known as mitochondrial disease. Recent growing evidence also suggests that defects in the nuclear genes encoding proteins involved in mitochondrial gene expression are also a leading cause of human mitochondrial disease. Among these nuclear encoded proteins are factors required for mitochondrial transcription, RNA processing, and translation. It would be remarkably interesting to discuss the most recent advances in our understanding of the post-transcriptional processes of mtDNA gene expression, which represents an emerging field of research—in particular, the recent discovery of novel factors required for modification and maturation of mtRNAs, the characterization of mtRNA granules as sites for organization of mtRNA processing, the biogenesis and composition of the mitoribosomes, and the coordination required for concerted nuclear and mitochondrial gene expression.

Dr. Maria Simarro Grande
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 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. 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.

Keywords

  • mitochondria
  • RNA processing
  • RNA granules
  • mitoribosomes

Published Papers (4 papers)

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Research

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10 pages, 2528 KiB  
Article
Anatomical Laser Microdissection of the Ileum Reveals mtDNA Depletion Recovery in A Mitochondrial Neuro-Gastrointestinal Encephalomyopathy (MNGIE) Patient Receiving Liver Transplant
by Elisa Boschetti, Leonardo Caporali, Roberto D’Angelo, Carolina Malagelada, Anna Accarino, Maria Teresa Dotti, Roberta Costa, Giovanna Cenacchi, Loris Pironi, Rita Rinaldi, Vincenzo Stanghellini, Stefano Ratti, Lucia Manzoli, Valerio Carelli and Roberto De Giorgio
Int. J. Mol. Sci. 2022, 23(15), 8792; https://doi.org/10.3390/ijms23158792 - 08 Aug 2022
Viewed by 1483
Abstract
mitochondrial neuro-gastrointestinal encephalomyopathy (MNGIE) is a rare genetic disorder characterized by thymidine phosphorylase (TP) enzyme defect. The absence of TP activity induces the imbalance of mitochondrial nucleotide pool, leading to impaired mitochondrial DNA (mtDNA) replication and depletion. Since mtDNA is required to ensure [...] Read more.
mitochondrial neuro-gastrointestinal encephalomyopathy (MNGIE) is a rare genetic disorder characterized by thymidine phosphorylase (TP) enzyme defect. The absence of TP activity induces the imbalance of mitochondrial nucleotide pool, leading to impaired mitochondrial DNA (mtDNA) replication and depletion. Since mtDNA is required to ensure oxidative phosphorylation, metabolically active tissues may not achieve sufficient energy production. The only effective life-saving approach in MNGIE has been the permanent replacement of TP via allogeneic hematopoietic stem cell or liver transplantation. However, the follow-up of transplanted patients showed that gut tissue changes do not revert and fatal complications, such as massive gastrointestinal bleeding, can occur. The purpose of this study was to clarify whether the reintroduction of TP after transplant can recover mtDNA copy number in a normal range. Using laser capture microdissection and droplet-digital-PCR, we assessed the mtDNA copy number in each layer of full-thickness ileal samples of a naive MNGIE cohort vs. controls and in a patient pre- and post-TP replacement. The treatment led to a significant recovery of gut tissue mtDNA amount, thus showing its efficacy. Our results indicate that a timely TP replacement is needed to maximize therapeutic success before irreversible degenerative tissue changes occur in MNGIE. Full article
(This article belongs to the Special Issue Mitochondrial DNA and RNA in Human Disease)
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13 pages, 2122 KiB  
Article
Systematic Analysis of FASTK Gene Family Alterations in Cancer
by Lorena Magraner-Pardo, Dino Gobelli, Miguel A. de la Fuente, Tirso Pons and María Simarro
Int. J. Mol. Sci. 2021, 22(21), 11337; https://doi.org/10.3390/ijms222111337 - 20 Oct 2021
Cited by 7 | Viewed by 2602
Abstract
The FASTK family of proteins have been recently reported to play a key role in the post-transcriptional regulation of mitochondrial gene expression, including mRNA stability and translation. Accumulated studies have provided evidence that the expression of some FASTK genes is altered in certain [...] Read more.
The FASTK family of proteins have been recently reported to play a key role in the post-transcriptional regulation of mitochondrial gene expression, including mRNA stability and translation. Accumulated studies have provided evidence that the expression of some FASTK genes is altered in certain types of cancer, in agreement with the central role of mitochondria in cancer development. Here, we obtained a pan-cancer overview of the genomic and transcriptomic alterations of FASTK genes. FASTK, FASTKD1, FASTKD3 and FASTKD5 showed the highest rates of genetic alterations. FASTK and FASTKD3 alterations consisted mainly of amplifications that were seen in more than 8% of ovarian and lung cancers, respectively. FASTKD1 and FASTKD5 were the most frequently mutated FASTK genes, and the mutations were identified in 5–7% of uterine cancers, as well as in 4% of melanomas. Our results also showed that the mRNA levels of all FASTK members were strongly upregulated in esophageal, stomach, liver and lung cancers. Finally, the protein-protein interaction network for FASTK proteins uncovers the interaction of FASTK, FASTKD2, FASTKD4 and FASTKD5 with cancer signaling pathways. These results serve as a starting point for future research into the potential of the FASTK family members as diagnostic and therapeutic targets for certain types of cancer. Full article
(This article belongs to the Special Issue Mitochondrial DNA and RNA in Human Disease)
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Review

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14 pages, 1197 KiB  
Review
Functional Role of Mitochondrial DNA in Cancer Progression
by Yang-Hsiang Lin, Siew-Na Lim, Cheng-Yi Chen, Hsiang-Cheng Chi, Chau-Ting Yeh and Wey-Ran Lin
Int. J. Mol. Sci. 2022, 23(3), 1659; https://doi.org/10.3390/ijms23031659 - 31 Jan 2022
Cited by 25 | Viewed by 5001
Abstract
Mitochondrial DNA (mtDNA) has been identified as a significant genetic biomarker in disease, cancer and evolution. Mitochondria function as modulators for regulating cellular metabolism. In the clinic, mtDNA variations (mutations/single nucleotide polymorphisms) and dysregulation of mitochondria-encoded genes are associated with survival outcomes among [...] Read more.
Mitochondrial DNA (mtDNA) has been identified as a significant genetic biomarker in disease, cancer and evolution. Mitochondria function as modulators for regulating cellular metabolism. In the clinic, mtDNA variations (mutations/single nucleotide polymorphisms) and dysregulation of mitochondria-encoded genes are associated with survival outcomes among cancer patients. On the other hand, nuclear-encoded genes have been found to regulate mitochondria-encoded gene expression, in turn regulating mitochondrial homeostasis. These observations suggest that the crosstalk between the nuclear genome and mitochondrial genome is important for cellular function. Therefore, this review summarizes the significant mechanisms and functional roles of mtDNA variations (DNA level) and mtDNA-encoded genes (RNA and protein levels) in cancers and discusses new mechanisms of crosstalk between mtDNA and the nuclear genome. Full article
(This article belongs to the Special Issue Mitochondrial DNA and RNA in Human Disease)
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26 pages, 1996 KiB  
Review
Evidence for the Role of Mitochondrial DNA Release in the Inflammatory Response in Neurological Disorders
by Gonzalo E. Moya, Phillip D. Rivera and Kristin E. Dittenhafer-Reed
Int. J. Mol. Sci. 2021, 22(13), 7030; https://doi.org/10.3390/ijms22137030 - 29 Jun 2021
Cited by 42 | Viewed by 5214
Abstract
Mitochondria are regarded as the metabolic centers of cells and are integral in many other cell processes, including the immune response. Each mitochondrion contains numerous copies of mitochondrial DNA (mtDNA), a small, circular, and bacterial-like DNA. In response to cellular damage or stress, [...] Read more.
Mitochondria are regarded as the metabolic centers of cells and are integral in many other cell processes, including the immune response. Each mitochondrion contains numerous copies of mitochondrial DNA (mtDNA), a small, circular, and bacterial-like DNA. In response to cellular damage or stress, mtDNA can be released from the mitochondrion and trigger immune and inflammatory responses. mtDNA release into the cytosol or bloodstream can occur as a response to hypoxia, sepsis, traumatic injury, excitatory cytotoxicity, or drastic mitochondrial membrane potential changes, some of which are hallmarks of neurodegenerative and mood disorders. Released mtDNA can mediate inflammatory responses observed in many neurological and mood disorders by driving the expression of inflammatory cytokines and the interferon response system. The current understanding of the role of mtDNA release in affective mood disorders and neurodegenerative diseases will be discussed. Full article
(This article belongs to the Special Issue Mitochondrial DNA and RNA in Human Disease)
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