Special Issue "Expanding the Genetic Landscape of Mitochondrial Diseases"
Deadline for manuscript submissions: closed (20 September 2021).
Interests: mitochondrial disease; mitochondria in health and disease; OXPHOS; mitochondrial gene expression; disease models and mechanisms; genome editing
Interests: mitochondrial disease; mitochondrial genetics; diagnostics; genomics; disease mechanisms
Inherited metabolic disorders, in particular those affecting mitochondrial bioenergetics, hallmark a clinically and genetically heterogenous group of diseases associated with more than 300 monogenic disorders. Two distinct genomes (mitochondrial DNA and nuclear DNA) can underlie mitochondrial disease pathogenesis, making the diagnosis a challenging area of genetics. However, recent advances in next-generation sequencing (NGS) techniques and improvements in analytical approaches, alongside ‘omics’ studies, have revolutionized the genetic diagnosis of mitochondrial diseases, leading to a rapid discovery of novel disease genes. Detailed functional characterization of disease-causing variants is required to confirm the genetic diagnosis and elucidate pathological mechanisms driving mitochondrial disorders. By integrating studies using patient samples, cell or animal models, as well as ‘omics’ approaches including transcriptomics and proteomics analyses, unbiased genotype-driven diagnosis of mitochondrial diseases can be achieved, which will also provide new insights into different aspects of mitochondrial biology.
The purpose of this Special Issue of Genes is to highlight current trends in the clinical and genetic diagnosis of mitochondrial disorders, ultimately leading to novel gene discovery and the establishment of pathogenic parameters that influence the disease state. This Special Issue welcomes studies in the field of mitochondrial disease diagnosis, using massively parallel sequencing (MPS) technologies, ‘omics’ approaches, and/or model systems to enable the establishment of disease etiology. In addition, articles on emerging treatment strategies, e.g., generation of models for testing, translation of MPS into new diagnostic strategies, and related ethical issues are welcome.
Dr. Monika Olahova
Prof. Dr. Robert W. Taylor
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 papers will be 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. Genes 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 2000 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
- genotype–phenotype correlations
- mitochondrial dysfunction
- diagnosis of mitochondrial diseases
- next-generation sequencing technologies (e.g., WES, WGS)
- novel mitochondrial gene discovery
- mitochondrial DNA variants
- nuclear DNA variants in genes encoding mitochondrial proteins
- ‘omics’ studies (transcriptomics, proteomics, metabolomics, etc.)
- emerging therapeutic strategies.