Rare Mitochondrial Disorders Gene Identification
Mitochodira are energy-producing organelles located within human cells that have their own genome. Our company provides highly accurate analysis of the mitochondria genome with next-generation sequencing to find variants for rare mitochondrial diseases. Our adaptive strategies for the diagnosis of gene bearing rare mitochondrial disorders can uncover therapeutic avenues and deepen your understanding of the pathophysiology of rare mitochondrial diseases.
Introduction to Mitochondrial Disorders
All eukaryotic cells contain mitochondria, which are capable of oxidative phosphorylation (OXPHOS) for ATP energy transfer or are needed for other cellular activities, such as apoptosis and various signaling pathways. There is no specific therapy available for mitochondrial disorders as treatment is chiefly symptomatic and pharmacological. Thanks to NGS technology, however, researchers can now determine previously unknown genetic defects that impact mitochondrial oxidative phosphorylation. Pathogenic mutations in over 300 genes have been discovered to date.
Fig.1 Overview of genetic testing strategies for mitochondrial disease individuals. (Mavraki, Eleni, et al., 2023)Challenges in the Study of Mitochondrial Disorders
Mitochondrial disorders tend to be multisystemic, having focal expression in the nervous and muscular systems. Studies pertaining to a mitochondrial illness's subtypes tend to be problematic as a result of phenotypic diversity and genetic complexity of the population. The investigation of mitochondrial disorders is beset by the following problems:
- Differences in the number of mitochondria required for different tissues.
- Interactions between nuclear and mitochondria encoded genes.
- The presence of multiple mitochondrial genomes per cell.
- The impact of different combinations of factors on disease presentation and severity.
Our Services
Our company specializes in identifying point mutations and deletions in mitochondria alongside the analysis of mtDNA, nDNA, and the D-loop hyper variable region for the purposes of aiding in the research and identification of rare disease targets. We help customers identify genes related to specific variants of rare mitochondrial diseases.
Whole Exome Sequencing
Utilizing previously acquired knowledge of certain weakly associated mitochondrial variants, we can develop targeted sequencing panels that focus on specific genes or regions.
This service encompasses the entire exome and focuses on the relevant areas in the mitochondria which suffer mutations that are most frequently associated with particular diseases.
Enables the user to capture the complete range of pathogenic variants for rare mitochondrial disorders by sequencing the entire mitochondrial and nuclear genomes simultaneously.
Service Highlights
- Professional team with many years of experience
- Providing standardized upstream platform solutions
- Competitive pricing and fast turnaround time
- Cutting-edge technology and equipment
- Advanced platforms and reliable analysis
- High-quality one-stop service
Project Workflow
Next Generation Sequencing coupled with deep learning analysis allows for our company to deliver a premium rarity gene identification service to detect disease causing genes associated with rare mitochondrial disorders. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
Reference
- Mavraki, Eleni, et al. "Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines." European Journal of Human Genetics 31.2 (2023): 148-163.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.