Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
4.3
3.2
Journals
Life
Special Issues
Genetics of Mitochondrial Diseases: State of the Art
share announcement

Genetics of Mitochondrial Diseases: State of the Art

A special issue of Life (ISSN 2075-1729). This special issue belongs to the section "Physiology and Pathology".

Deadline for manuscript submissions: closed (30 September 2022) | Viewed by 4697

Special Issue Editor

Dr. Metodi D. Metodiev

E-Mail Website
Guest Editor
Laboratory for Genetics of Mitochondrial Disorders, INSERM U1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France
Interests: gene therapy; mitochondrial diseases; impaired mitochondrial translation; proteostasis; leigh syndrome

Special Issue Information

Dear Colleagues,

Mitochondrial diseases (MDs) have a minimum prevalence of around 1:5000 and can occur at age. In pediatric patients, these pathologies are typically devastating with a poor prognosis. Regardless of their onset, MDs are incurable, and available treatments are mostly symptomatic with little effect on the progression of the disease. MDs are genetically and clinically heterogeneous, which presents an important hindrance to their clinical diagnosis, understanding and treatment. Clinical presentations can include isolated or multisystemic disorders—often cardiomyopathies, encephalopathies, hepatopathies, although other organs and tissues can also be affected—in the absence of clear genotype-phenotype correlation. To date, more than 330 nuclear-encoded and most mtDNA-encoded genes have been implicated in these pathologies. The number of new disease genes has increased dramatically with the wider use of high thruput sequencing, and its recent integration with other omics approaches will undoubtedly lead to a further increase in the diagnostic yield for patients with MDs.

This special issue welcomes review and research articles addressing recent advances in the field of mitochondrial medicine from diagnosis to new treatment strategies; articles reporting on novel mitochondrial disease genes and animal models expanding our understanding of mitochondrial diseases will also be considered.

Dr. Metodi D. Metodiev
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. 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
  • genetic analysis
  • therapy of mitochondrial diseases
  • genotype-phenotype correlation

Published Papers (2 papers)

Download All Papers
Order results
Result details
Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:

Research

13 pages, 2494 KiB  
Article
Long-Term Progression and Rapid Decline in Hearing Loss in Patients with a Point Mutation at Nucleotide 3243 of the Mitochondrial DNA
by Aki Sakata, Akinori Kashio, Hajime Koyama, Tsukasa Uranaka, Shinichi Iwasaki, Chisato Fujimoto, Makoto Kinoshita and Tatsuya Yamasoba
Life 2022, 12(4), 543; https://doi.org/10.3390/life12040543 - 6 Apr 2022
Cited by 3 | Viewed by 2050
Abstract
Patients with m.3243A>G mutation of mitochondrial DNA develop bilaterally symmetric sensorineural hearing loss. However, it is unclear how fast their hearing loss progresses over time, and whether they experience rapid progression of hearing loss. In the present study, we conducted a long-term hearing [...] Read more.
Patients with m.3243A>G mutation of mitochondrial DNA develop bilaterally symmetric sensorineural hearing loss. However, it is unclear how fast their hearing loss progresses over time, and whether they experience rapid progression of hearing loss. In the present study, we conducted a long-term hearing evaluation in patients with MELAS or MIDD who harbored the m.3243A>G mutation of mitochondrial DNA. A retrospective chart review was performed on 15 patients with this mutation who underwent pure-tone audiometry at least once a year for more than two years. The mean follow-up period was 12.8 years. The mean progression rate of hearing loss was 5.5 dB per year. Hearing loss progressed rapidly to be profoundly deaf in seven patients during the observation period. Heteroplasmy and age-corrected heteroplasmy levels correlated with the age of onset of hearing loss. These results indicate that patients with m.3243A>G mutation have a gradual progression of hearing loss in the early stages and rapid decline in hearing to be profoundly deaf in approximately half of the patients. Although it is possible to predict the age of onset of hearing loss from heteroplasmy and age-corrected heteroplasmy levels, it is difficult to predict whether and when the rapid hearing loss will occur. Full article
(This article belongs to the Special Issue Genetics of Mitochondrial Diseases: State of the Art)
►▼ Show Figures

Figure 1

11 pages, 1828 KiB  
Communication
Cochlear Implantation in Patients with Mitochondrial Gene Mutation: Decline in Speech Perception in Retrospective Long-Term Follow-Up Study
by Kai Kanemoto, Akinori Kashio, Erika Ogata, Yusuke Akamatsu, Hajime Koyama, Tsukasa Uranaka, Yujiro Hoshi, Shinichi Iwasaki and Tatsuya Yamasoba
Life 2022, 12(4), 482; https://doi.org/10.3390/life12040482 - 26 Mar 2022
Cited by 3 | Viewed by 1740
Abstract
Clinical evidence of the effectiveness of cochlear implantation for hearing loss with mitochondrial DNA mutation is limited. Most reports have only described short-term postoperative speech perception, which may not reflect the limitations of cochlear implantation caused by progressive retrocochlear dysfunction. The present study [...] Read more.
Clinical evidence of the effectiveness of cochlear implantation for hearing loss with mitochondrial DNA mutation is limited. Most reports have only described short-term postoperative speech perception, which may not reflect the limitations of cochlear implantation caused by progressive retrocochlear dysfunction. The present study aimed to investigate long-term speech perception after cochlear implantation in patients with severe to profound hearing loss associated with mitochondrial DNA mutation. A retrospective chart review was performed on patients with mitochondrial DNA mutation who had undergone cochlear implantation at the Department of Otolaryngology and Head and Neck Surgery at the University of Tokyo Hospital. We extracted data on causative mutations, clinical types, clinical course, perioperative complications, and short-term and long-term postoperative speech perception. Nine patients with mitochondrial DNA mutation underwent cochlear implantation. The mean observation period was 5.5 ± 4.2 years (range, 1–13 years), and seven patients were followed for more than 3 years. Two of the seven patients who initially showed good speech perception exhibited deterioration during long-term follow-up. The absence of an acute progression of cognitive decline in patients, showing a gradual decrease in speech perception, suggests that the deterioration of speech perception was caused by progressive retrocochlear degeneration. Although most patients with mitochondrial DNA mutation maintained good speech perception for more than 3 years after cochlear implantation, retrocochlear degeneration could cause the deterioration of speech perception during long-term follow-up. Full article
(This article belongs to the Special Issue Genetics of Mitochondrial Diseases: State of the Art)
►▼ Show Figures

Figure 1

Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:
 
Displaying articles 1-2
Back to TopTop