Cystinuria
Cystinuria is a rare genetic disorder that affects the transport of the amino acid cystine in the kidneys and urinary tract, leading to the formation of cystine stones and potential complications. Our company stands out as a leader in the field of rare diseases, including conditions like cystinuria, and our commitment to providing comprehensive one-stop services for researchers in this field.
Overview of Cystinuria
Cystinuria is an autosomal recessive disorder characterized by abnormalities in the way cystine is reabsorbed by the renal tubules, resulting in its excessive excretion in the urine, where it can crystallize and form stones in the urinary system. The condition is estimated to have an incidence of approximately 1 in 7,000 individuals. Individuals with cystinuria face the risk of recurrent kidney stones, which can cause pain and discomfort, as well as potentially serious health issues if left untreated.
Fig.1 Characteristic hexagonal cystine crystals. (Sadiq, S., and Cil, O., 2022)Pathogenesis of Cystinuria
The underlying cause of cystinuria lies in genetic mutations that impact the transport of cystine in the body. Specifically, mutations in genes such as SLC3A1 and SLC7A9, which encode transporters responsible for cystine reabsorption, can disrupt this process and lead to the accumulation of cystine in the urine. In addition, certain chromosomal deletions can also contribute to the development of cystinuria. For instance, hypotonia-cystinuria syndrome can occur due to homozygous deletions affecting genes like SLC3A1 and the neighboring gene PREPL, further highlighting the complex genetic mechanisms involved in cystinuria.
Fig.2 Complications of cystinuria. (Sadiq, S., and Cil, O., 2022)Diagnostics Development of Cystinuria
Genetic testing can be done to identify mutations in the SLC3A1 and SLC7A9 genes, identifying and confirming the specific genetic variant involved.
- Urine Cystine Detection
A 24-hour urine collection is performed to measure the levels of cystine and other substances. Elevated cystine levels in the urine are suggestive of cystinuria.
- Stone Analysis
Microscopic examination of urine samples revealed characteristic hexagonal crystals. This analysis helps differentiate cystinuria from other types of kidney stones.
Therapeutics Development of Cystinuria
| Agents | Types | Mechanism |
|---|---|---|
| D-penicillamine | Small molecule drug | Bind to cystine and form soluble complexes |
| Tiopronin | Small molecule drug | Reduce cystine stone formation |
| Bucillamine | Small molecule drug | A thiol-binding drug |
| Tolvaptan | Small molecule drug | A vasopressin antagonist |
| α-lipoic acid | Small molecule drug | Increase cystine solubility |
| LH708 | Small molecule drug | Inhibit cystine stone formation |
| AAV vector | Gene therapy | Introduce functional copies of the mutated genes |
| CRISPR/Cas9 | Gene therapy | Gene editing to rescue cystine transporter activity |
Our Services
Our company has state-of-the-art laboratory facilities and cutting-edge technologies to a team of experienced scientists and technicians. With our animal models and therapeutic development platform, we provide researchers with the necessary tools and support to advance their studies on cystinuria.
Therapy Development Platforms
Animal Models of Cystinuria
Animal models play a crucial role in understanding the pathogenesis of human diseases, including cystinuria. Our company can provide you with a variety of animal models to investigate disease mechanisms, test novel interventions, and evaluate therapy efficacy.
This model involves the targeted disruption of the SLC3A1 or SLC7A9 genes by genetic engineering techniques such as CRISPR/Cas9, which are responsible for cystine transport in the kidneys, leading to elevated cystine levels and the formation of cystine stones.
Optional Models: Slc7a9tm1Nune model; Slc3a1tm1Jat model; Prepltm1.1Sagh model, etc.
Optional Species: Mice, Rats, Dogs, Non-Human Primates, Others
Our multidisciplinary approach allows for seamless integration of research efforts, encompassing genetic analysis, molecular diagnostics, and therapeutic development. By providing comprehensive and professional services including pharmacokinetic studies and drug safety evaluation, we are dedicated to making a meaningful impact in the field.
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
- Sadiq, Sanober, and Onur Cil. "Cystinuria: An Overview of Diagnosis and Medical Management." Turkish archives of pediatrics 57.4 (2022): 377-384.
- Peek, Jennifer L, and Matthew H Wilson. "Gene therapy for kidney disease: targeting cystinuria." Current opinion in nephrology and hypertension 31.2 (2022): 175-179.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.