Mitochondrial myopathies are a considerable group of progressive muscle diseases that are primarily due to the impairment of oxidative phosphorylation (OXPHOS). Protheragen, as one of the most prominent preclinical research service providers focused on mitochondrial diseases, is committed to advancing the research and development in the innovation of mitochondrial myopathy therapy.
Introduction to Mitochondrial Myopathy
Mitochondrial myopathy can arise from mutations in either mtDNA or nDNA. In the case of mtDNA, mutations are comprised of changes in 13 OXPHOS proteins, 22 tRNAs, and 2 rRNAs. These include point mutations in protein-coding and the mt-tRNA genes, as well as single large-scale deletions. On the other hand, nDNA contains the blueprints for more than a thousand proteins which include OXPHOS subunits and other proteins including those that ensure the integrity of mtDNA, which, when mutated, can cause deletion, or multiple deletions of mtDNA. The following examples illustrate the spectrum of symptoms associated with mitochondrial myopathy.
- The condition manifests as Chronic Progressive External Ophthalmoplegia, with or without mild weakness in the proximal muscles, or as Kearns-Sayre syndrome.
- It presents as a Primary Mitochondrial Myopathy, with or without exercise intolerance and/or myalgia.
- In infancy and childhood, it can manifest as severe myopathy or encephalopathy.
Fig.1 Mitochondrial disease symptoms and skeletal muscle biopsies. (Ahmed, S. T., et al., 2018)
Research Progress of Mitochondrial Myopathy
The diagnosis and therapy of disorders like mitochondrial myopathy is very complicated. But, with the advancement of technology and science, we have started to understand its pathological mechanisms better which have provided new avenues for research and therapeutic development.
Genetic Research
The genetic mutations in mitochondrial myopathy are extensively investigated to elucidate their association with the disease's.
Mitochondrial Function Research
Exploring the impact of mitochondrial dysfunction on cellular metabolism and energy supply to identify new therapeutic targets.
Novel Diagnostic Methods of Mitochondrial Myopathy
With improvements in understanding the condition, the diagnostic techniques for myopathies of the mitochondria are continuously changing. Let us examine some of the novel diagnostic techniques that are changing the way we detect and define mitochondrial myopathies.
- Advanced Histological and Immunohistochemical Studies
- Quadruple Immunofluorescent Assay
- Blue Native Acrylamide Page (BN-PAGE) Assay
- Functional Tests for Novel Mutations
- Spectrophotometric Evaluation of Respiratory Chain Complex Activities
- Sequential COX/SDH Histochemistry
- Next-Generation Sequencing (NGS)
- Additional Molecular Studies of mtDNA
Fig.2 Molecular genetics of mitochondrial myopathy. (Ahmed, S. T., et al., 2018)
Novel Therapies of Mitochondrial Myopathy
Even with undoubted progress made in studying mitochondrial myopathies, efficient therapeutic strategies are still unavailable. Although current therapy methods are largely symptomatic, research efforts are centered on developing therapeutic strategies that modify the disease processes and target its root molecular pathologies.
Antioxidants and Metabolic Enhancers
The objective of CoQ10 and idebenone is to increase ATP production and reduce oxidative stress which requires further study to confirm effectiveness.
Targeting Mitochondrial Biogenesis
Bezafibrate and RTA-408 are designed to enhance muscle performance by promoting mitochondrial proliferation, but their potential is still pending confirmation.
Novel Therapies
Some therapies like elamipretide and ketogenic diet’s ability to augment mitochondrial activity and decrease oxidative damage, but their application requires additional research.
Gene Editing Techniques
Targeted therapies based on gene editing are feasible by removing the mutated mitochondrial DNA. Their usefulness requires further scrutiny through active research and studies.
Our Services
Protheragen's services include the broad scope needed for the mitigation of barriers to advancing research in mitochondrial myopathy, which is tailored to address the unique challenges associated with this condition, and enables the advancement of solutions to such barriers.
Our Advantages
Contact us. If you have any questions or needs related to the diagnosis, therapy, or research of mitochondrial myopathy. With great pleasure, we stand ready to provide you with top-notch services and assist you in fighting mitochondrial myopathy.
Reference
- Ahmed, S. T., et al. (2018). Diagnosis and Treatment of Mitochondrial Myopathies. Neurotherapeutics: the journal of the American Society for Experimental NeuroTherapeutics, 15(4), 943–953.
