Multiple mitochondrial dysfunction syndrome (MMDS) is a collection of rare mitochondrial diseases that stems from mutations to proteins responsible for the synthesis of iron-sulfur clusters in the mitochondria. As a company that specializes in preclinical research services, Protheragen focuses on delivering top-notch research services about the therapy and understanding of MMDS.
Introduction to Multiple Mitochondrial Dysfunction Syndrome
MMDS is a collective term that applies to a type of mitochondrial disorder that is caused by nuclear gene mutations. The NFU1, BOLA3, IBA57, ISCA2, ISCA1, PMPCB, and a few other genes that are associated with MMDS mutation affect proteins that are involved in the synthesis and function of iron-sulfur clusters within mitochondria. Their mutation affects the efficiency of these proteins which leads to abnormal mitochondrial function. In the end, multi-system energy metabolism dysfunction makes it fatal.
Fig.1 Schematic showing the MMDS. (Zhong, H., et al., 2023)
Research Progress of Multiple Mitochondrial Dysfunction Syndrome
Studies involving MMDS are preliminary stages wherein efforts are concentrated on investigating its pathogenesis, developing appropriate therapeutic approaches, and improving its diagnostic techniques. They are currently focused on understanding the effects of mutated genes on mitochondria, the development of specific therapies for specific gene mutations, and enhancing the techniques of diagnostics.
Novel Diagnostic Multiple Mitochondrial Dysfunction Syndrome
As it stands, the detection of MMDS is mainly based on signs, family predisposition, biochemical analysis, imaging, and other techniques. Nevertheless, the progression of molecular biology and genomics technology is making it possible for novel diagnostic approaches that include genome sequencing, proteomics, and metabolomics among others. These new methodologies are so powerful that they can assist in diagnosing MMDS more accurately, thus allowing early management of the condition.
Novel Therapies of Multiple Mitochondrial Dysfunction Syndrome
At present, the therapeutic strategies targeting MMDS are chiefly symptomatic and supportive. As the pathophysiology of the disease is elucidated, it is becoming possible to therapeutically target the condition with approaches such as gene repair, gene modification, and stem cell interventions. For example, scientists are trying to integrate normal genes into individuals' cells to restore mitochondrial function that has become abnormal because of mutations in genes such as NFU1 or BOLA3. These new therapies are very encouraging for the tailored therapy of individuals with certain genetic abnormalities.
Our Services
Protheragen's main strength is providing complete pre-clinical research services for MMDS. A skilled team of scientists and researchers is dedicated to enhancing the knowledge and therapy options available for this disease.
Our Advantages
Protheragen's main concentration is to develop innovative therapies for MMDS and to advance knowledge towards a better understanding of the condition. If you would like to learn how our extensive research services in MMDS can support your research and drug development activities, please don't hesitate to contact us.
Reference
- Zhong, H., et al. (2023). BOLA3 and NFU1 link mitoribosome iron-sulfur cluster assembly to multiple mitochondrial dysfunctions syndrome. Nucleic acids research, 51(21), 11797–11812.
