Barth syndrome (BTHS) is a rare X-linked mitochondrial disorder characterized by neutropenia, skeletal myopathy, and cardiomyopathy (CMP). Protheragen offers specialized research services tailored to advance the understanding and treatment of Barth syndrome.
Introduction to Barth Syndrome
Barth syndrome, also known as LIC, Lethal Infantile Cardiomyopathy, BTHS, 3-methylglutaconic aciduria type 2, 3 methylglutaconic aciduria, type II, MGA type 2, MGA type II, is attributed to mutations in the TAFAZZIN, also known as G4.5 and TAZ, gene located on chromosome Xq28, which encodes a mitochondrial acyltransferase/transacylase required for cardiolipin (CL) biosynthesis. The clinical manifestations encompass cardiomyopathy, skeletal myopathy, neutropenia, growth retardation, and recurrent infections.
To enhance our understanding of TAZ function and the pathogenesis of Barth syndrome, as well as to accelerate the development of effective therapies, various model systems have been established to investigate the consequences resulting from TAZ mutation.
Fig.1 Experimental models of Barth syndrome. (Pu W. T., 2022)
Research Progress of Barth Syndrome
The current research on Barth syndrome is primarily focused on comprehending the underlying molecular mechanisms, clinical manifestations, and diagnostic methodologies associated with this disorder. Additionally, researchers are diligently striving to discover novel therapeutic interventions aimed at enhancing patients' quality of life and overall outcomes.
Novel Diagnostic Methods of Barth Syndrome
With the continuous advancement of diagnostic technology, it is anticipated that approaches such as gene sequencing and biomarker testing will enhance both the speed and precision of early disease detection.
Novel Therapies of Barth Syndrome
Various innovative treatments are currently under investigation to enhance the symptoms and quality of life for individuals with Barth syndrome, including gene therapy, pharmacotherapy, and nutritional support.
Gene therapy is an emerging therapeutic modality that aims to address inherited diseases by rectifying or substituting damaged genes. In the context of Barth syndrome patients, gene therapy holds potential for reinstating the functionality of affected genes, thereby ameliorating mitochondrial function and alleviating symptoms. Certain medications have shown promise in managing Barth syndrome symptoms. For instance, studies suggest that Bezafibrate and Eamipretide administration may contribute to mitigating mitochondrial oxidative damage and enhancing symptomatology.
Our Services
The BTHS phenotype, which is characterized by a loss-of-function in the protein product tafazzin, is attributed to mutations in the TAZ gene located on chromosome Xq28. Protheragen is committed to pioneering innovative gene therapy development for Barth syndrome. Additionally, we provide services for small molecule drug development service, macromolecular drug development service, cell therapy development service, and vaccine development service.
Our Advantages
The landscape of Barth syndrome research in Protheragen is evolving due to the increasing awareness and advancements in diagnostics and therapeutics. If you are interested in how our comprehensive Barth syndrome research services can enhance your research and drug development endeavors, please do not hesitate to contact us.
Reference
- Pu W. T. (2022). Experimental models of Barth syndrome. Journal of inherited metabolic disease, 45(1), 72–81.
