Kartagener Syndrome
Kartagener syndrome is a peculiar and extremely rare genetic disorder affecting the cilia – tiny hair-like structures found in the lungs, fallopian tubes, and the head of the sperm in men. Our firm offers rich expertise and professional skills in researching rare diseases like Kartagener Syndrome, and is, therefore, equipped to assist you in developing new therapies for such uncommon disorders.
Introduction to Kartagener Syndrome
A subtype of primary ciliary dyskinesia (PCD) is Kartagener syndrome PCD. It includes chronic infections, bronchiectasis and sinusitis that are caused by cilia malfunctioning. The syndrome affects about 1 in 15,000 to 30,000 people. Besides the signs of chronic sinusitis and bronchiectasis, patients also present with situs inversus. Apart from the issues with reproduction, patients tend to suffer from recurrent infections in the lung and upper respiratory tract.
Fig.1 Illustration representing the normal transverse appearance of motile respiratory cilia ultrastructure and common abnormalities associated with primary ciliary dyskinesia. (Newman, L., et al., 2023)Pathogenesis of Kartagener Syndrome
Due to the molecular basis of Kartagener syndrome pathogenesis its story lies in changes within the genes responsible for building the ciliary structure and motility, mostly the DNAI1. Defective cilia lead to extreme complications with mucus and bacterial clearance from the respiratory tract which results in chronic inflammation as well as difficulties with reproduction. Furthermore, the ciliary defect in the embryonic node hinders normal organ placement within the body and results in situs inversus.
Diagnostics Development of Kartagener Syndrome
Must the methodology of genetic diagnostics be included for Kartagener syndrome within the therapeutic? It certainly is employed for accurate diagnosis and developing personalized therapy. It helps in detection of mutations in over thirty associated genes.
- DNAI1
- DNAH5
- CCDC40
- ODAD3
- RSPH4A
- DNAI2
- DNAH11
- DNAAF3
- Others
Therapeutics of Kartagener Syndrome
Small Molecule Drugs Therapy
Bronchodilator therapy with albuterol and ipratropium plus fluticasone steroid and azithromycin antibiotic therapy – this trio treats upper airway infections and opens pulmonary airways while reducing inflammation. Mucolytics are also available to help thin secretions to make cough productive.
Gene Therapy
Considering that Kartagener Syndrome is an inheritable ailment, gene therapy treatment seems to be a good option for the future. Gene therapy comprises the direct alteration of the defective genes in the specific location where the dysfunction exists or the implantation of a working gene in a specific location.
Our Services
Based on years of research we have gathered professional expertise that enables us to deliver animal models and therapeutic platforms to assist in the development novel therapies for Kartagener syndrome Kartagener syndrome.
Platforms of Kartagener Syndrome Therapy Development
Animal Models of Kartagener Syndrome
Our company can provide chemically induced or genetically manipulated animal models for Kartagener syndrome which makes it possible to study the complexities of the disorder and devise effective treatment strategies.
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| Some methods employ chemical mutagens such as ENU to induce point mutations in animal genes. These models portray characteristic symptoms akin to PCD, encompassing respiratory infections and laterality defects. | ||
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| Genetically Engineered Models | ||
| Gene-editing techniques, mold specific genes, thus generating animal models for Kartagener syndrome. This procedure allows for precise gene manipulation, resulting in animals that accurately mirror the human genetic profile of the disease. | ||
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| Optional Species | Mice, Rats, Zebrafish, Non-Human Primates, Others | |
We have extensive experience in studying orphan diseases and offer complete solutions to assist in pharmacokinetics analysis research and drug safety evaluation. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
References
- Cheng, Lili et al. "Anesthetic management of patients with Kartagener syndrome: A systematic review of 99 cases." Journal of cardiothoracic and vascular anesthesia 37.6 (2023): 1021-1025.
- Newman, Lydia et al. "The impact of primary ciliary dyskinesia on female and male fertility: a narrative review." Human reproduction update 29.3 (2023): 347-367.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.