Bartter syndrome (BTHS) poses great challenges in diagnosis due to its diverse clinical manifestations and different ages of onset. At our company, we are dedicated to creating cutting-edge genetic testing reagents/kits and accompanying diagnostic equipment to address the challenges encountered in BTHS diagnosis. Serving as your reliable partner in the realm of BTHS diagnostic research, we deliver effective and all-encompassing solutions to fulfill all your scientific research requirements.
Introduction to Barth Syndrome
Bartter syndrome (BTHS) is a rare X-linked recessive genetic disorder that primarily affects males. BTHS may affect multiple body systems, with a prominent childhood cardiomyopathy as a primary feature and may be fatal. The incidence of BTHS varies by region. Research shows that in the southwest of England and southern Wales, the incidence of BTHS is 1 in 140,000 live births. In the United States, the incidence of BTHS is 1 in 300,000 to 1 in 400,000 live births.
Fig. 1 The molecular basis of BTHS cardiomyopathy. (Duis J, et al., 2022)
Disease Mechanism of Barth Syndrome
Bartter syndrome (BTHS) is closely associated with mutations in the TAFAZZIN gene located on the X chromosome. The TAFAZZIN gene encodes the tafazzin protein, which plays a critical role in cardiolipin metabolism within the mitochondria. The following table shows the pathological mechanism of BTHS in steps.
| Steps |
Description |
| Gene Mutation |
Mutations in the TAFAZZIN gene result in tafazzin protein dysfunction. |
| Impaired Mitochondrial Function |
Dysfunction of the tafazzin protein disrupts the normal processing of cardiolipin, which is crucial for maintaining mitochondrial structure and function. This disruption leads to impaired mitochondrial function. |
| Decreased Energy Production |
Impaired mitochondrial function results in reduced cellular energy production. Mitochondria in high-energy-demand tissues, such as the heart and skeletal muscles, are particularly affected, leading to the typical symptoms of dilated cardiomyopathy and skeletal myopathy in patients with BTHS. |
| Cellular Consequences |
Disruption of mitochondrial homeostasis also leads to cellular dysfunction, oxidative stress, and impaired bioenergetics, further exacerbating the multisystem manifestations of BTHS. |
In Vitro Diagnostic Development for Barth Syndrome
The development of in vitro diagnostics for Bartter syndrome (BTHS) is crucial for accurate and early detection of this rare genetic disorder. Developing effective diagnostic tools for BTHS requires a comprehensive approach that considers the complex genetic and clinical features of the disorder. The following are the key diagnostic development strategies of BTHS.
Genetic Testing
Genetic testing is an important strategy for the development of Bartter syndrome diagnostics. It is crucial to use advanced molecular diagnostic techniques to identify pathogenic variants in the TAFAZZIN gene, as this gene is where mutations leading to BTHS are located.
Biomarker Identification
Identification of specific biomarkers associated with Barth syndrome enhances diagnostic accuracy and monitoring of disease progression. Biomarkers such as elevated levels of 3-methylglutaconic acid in blood and urine serve as valuable indicators for the presence of BTHS.
Our Services
Our company specializes in crafting in vitro diagnostic (IVD) solutions customized for Bartter syndrome (BTHS). We innovate genetic testing reagents and kits that precisely detect mutations within the TAFAZZIN gene. By focusing on specific biomarkers for BTHS, we design metabolite detection reagents and kits to assess the level of 3-methylglutaric acid in samples.
By developing cutting-edge complementary diagnostic devices, we simplify the diagnostic process of Bartter syndrome (BTHS) by making it more automated and efficient. To expedite the diagnosis and precise treatment of BTHS, we offer point-of-care testing and companion diagnostic development services to facilitate timely and accurate intervention.
If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
References
- Pang J, Bao Y, Mitchell-Silbaugh K, et al. Barth syndrome cardiomyopathy: an update[J]. Genes, 2022, 13(4): 656.
- Imai-Okazaki A, Kishita Y, Kohda M, et al. Barth syndrome: different approaches to diagnosis[J]. The Journal of pediatrics, 2018, 193: 256-260.
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