Nephropathic Cystinosis
Fig.1 The interplay of inflammation, autophagy, and apoptosis in nephropathic cystinosis cells. (Elmonem, M. A., et al., 2022)
Nephropathic cystinosis stands among the rare lysosomal storage disorders that afflict individuals due to autosomal recessive mutations in the CTNS gene, which encodes the cystine transporter cystinosin, leading to multi-organ damage, mainly affecting the kidneys. Our company excels in the field of rare disease diagnosis and therapy, offering a wide range of comprehensive services tailored to meet the unique needs of researchers and scientists.
Overview of Nephropathic Cystinosis
Nephropathic cystinosis, a rare genetic disorder affecting 1 in 100,000-200,000 live births, arises from the aberrant accumulation of cystine, an amino acid, within various tissues and organs of the body. It primarily affects the kidneys, leading to kidney dysfunction and damage, but can also impact other organs such as the eyes, liver, muscles, and thyroid. This condition is caused by mutations in the CTNS gene, which is responsible for producing a protein called cystinosin. Without functional cystinosin, cystine accumulates and forms crystals within cells, gradually causing cellular damage and organ dysfunction.
Pathogenesis of Nephropathic Cystinosis
The pathogenesis of nephropathic cystinosis involves the defective transport of cystine out of the lysosomes, which are compartments within the cells responsible for breaking down and recycling waste materials. In individuals with nephropathic cystinosis, the lysosomal accumulation of cystine leads to cellular toxicity, oxidative stress, and impaired cellular function. This cystine accrual within the kidneys culminates in progressive damage to renal tubules, ultimately resulting in end-stage renal disease if left unchecked.
Diagnostics Development of Nephropathic Cystinosis
The diagnosis of nephropathic cystinosis is typically made based on laboratory tests and genetic analysis.
- Cystine Determination
Diagnosing nephropathic cystinosis hinges upon laboratory tests such as measuring cystine levels in white blood cells through sophisticated techniques like HPLC or LC-MS/MS. These tests unveil the signature cystine accumulation indicative of the condition.
- Molecular Genetic Analysis
Molecular genetic analyses utilizing advanced methodologies like quantitative polymerase chain reaction (qPCR) and next-generation sequencing (NGS) serve to confirm the presence of CTNS gene mutations, which is a pivotal step in confirming the diagnosis.
Therapeutics Development of Nephropathic Cystinosis
The mainstay of therapy is a cystine-depleting drug called cysteamine, which helps lower cystine levels within cells. Cysteamine is typically administered orally in the form of immediate-release or delayed-release capsules, and its regular use is crucial to slowing down the progression of the disease.
Drug therapies such as indomethacin, Galectin-3 inhibitors (thiodigalactoside and N-Acetyl-D-Lactosamine), and recombinant IL-1 receptor antagonist (anakinra) can target inflammatory pathways to reduce kidney and other organ damage in individuals with nephropathic cystinosis disease.
Our Services
Our company excels in the field of rare disease diagnosis and therapy, offering a wide range of comprehensive services tailored to meet the unique needs of researchers and scientists. With our animal models and therapeutic development platform, we provide services from disease mechanism research to innovative therapy development and therapeutic effects.
Therapy Development Platforms
Animal Models of Nephropathic Cystinosis
Animal models play a crucial role in understanding nephropathic cystinosis and studying potential therapeutics. Our company offers a variety of animal models to help you better understand the pathophysiology of the disease and to test potential therapeutic interventions.
The genetic engineering model involves the use of gene editing techniques to cause mutations in the CTNS gene, which is the same gene mutated in humans with nephropathic cystinosis.
Optional Models: Ctnstm1Antc model; Ctnsem1Cya model; Ctnsem1Gpt model, etc.
Optional Species: Mice, Rats, Zebrafish, Drosophila, Non-Human Primates, Others
Our company is committed to developing and providing innovative therapeutic solutions for rare diseases and can support your pharmacokinetic studies and drug safety evaluation. Our comprehensive services, cutting-edge technologies, expert team, and collaborative approach to research make us a trusted partner.
If you are interested in learning more about our services and how we can support your research endeavors, please do not hesitate to reach out to us for further information.
References
- Elmonem, Mohamed A et al. "Nephropathic Cystinosis: Pathogenic Roles of Inflammation and Potential for New Therapies." Cells 11.2 (2022): 190.
- Emma, Francesco et al. "Biomarkers in Nephropathic Cystinosis: Current and Future Perspectives." Cells 11.11 (2022): 1839.
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