Advanced Research in Mitochondrial Genetics
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Biology".
Deadline for manuscript submissions: closed (20 September 2024) | Viewed by 706
Special Issue Editor
Interests: next-generation sequencing; third-generation sequencing; variant classification models; inherited disease; single-cell sequencing
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
This Special Issue is a continuation of our previous Special Issue on “Recent Advances on Mitochondrial Diseases” (https://www.mdpi.com/journal/ijms/special_issues/Advances_Mitochondrial_Diseases).
Mitochondria are responsible for the cellular source of energy in every living cell. Since mitochondria have a dual genetic origin, with a small part of the genetic information being present in the mitochondrial DNA (mtDNA), and the vast majority in the nuclear DNA (nDNA). Most of the structural proteins of the oxidative phosphorylation (OXPHOS) complexes and the proteins involved in mtDNA replication, transcription, translation, assembly of the OXPHOS protein complexes, maintenance, and in mitochondrial quality control are encoded by around 1500 nDNA genes. In the last decennia, Next-generation sequencing (NGS) is used as a state-of-the-art technology to unravel the pathophysiology of disease-causing variants in mitochondrial diseases (MD) which are the most common genetic metabolic diseases, affecting approximately 1 in 5000 individuals.
MD form a clinically and genetically heterogeneous group of disorders, which generally manifest in tissues or organs with a high energy requirement. Although, the use of targeted mitochondrial DNA sequencing (mtDNA-Seq), whole-exome sequencing (WES) and whole-genome sequencing (WGS) improved the diagnostic yield in the search of disease-causing variants in MD. It has recently become clear that large-scale genetic research on the pathophysiology of tissues and cell lines does not sufficiently map the underlying complexity and heterogeneity in relation to these disease-causing variants or mutation levels in case of homoplasmic or heteroplasmic mtDNA mutations. Tissues are made up of large numbers of cells that can differ greatly from one another, and especially the differences in mtDNA copies and mutation percentages per cell makes this level of understanding a little bit foggy or misunderstood in the transmission mechanism during MD. The same applies to other diseases, as in tumors which consist of cells with different genetic abnormalities, a different transcriptome and epigenome, and therefore a different malignancy.
In the current standard bulk analyses on DNA genomics or RNA whole transcriptomics technologies, these biological relevant pathophysiology differences are not always picked up. However, recently for these complex analyses of individual cells in a tissue, or in a tumor, or in stem cells; new technologies are developed that offers the possibility to determine per cell the whole transcriptome sequencing (Single-Cell-RNA-Seq), or the epigenome as open DNA chromatin sequencing (Single-Cell-ATAC-Seq), or as immune-profiling (Single-Cell-Immune-Profiling-Seq), in individual cells or cell nuclei (single cell, and single nuclei level). But also, on tissue level as Formalin-Fixed-Paraffin-Embedded (FFPE) or fresh frozen (FF) samples by spatial whole transcriptomics using selective regions of interests (ROIs) for single cells stained by protein markers to perform specific whole transcriptome profiling at the level of spatial resolution per cell. In general, these new technologies are necessary in understanding the pathophysiology in MD within the current translational science. Since MD can display any symptom, at any age and any time. Finally, the course of MD is progressive, causing substantial morbidity and mortality. Today, no effective treatment exists for the vast majority of MD, but this should change in future.
Therefore, this Special Issue aims to provide a current overview of Advanced Research in Mitochondrial Genetics in our understanding of biological mechanisms, diagnosis, and improvements in treatment of Mitochondrial Diseases.
Dr. Rick Kamps
Guest Editor
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Keywords
- mitochondrial DNA sequencing
- whole-exome sequencing
- whole-genome sequencing
- single-cell-sequencing
- formalin-fixed-paraffin-embedded tissues
- spatial-whole-transcriptomics
- mitochondrial diseases
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