[Von Willebrand disease. Molecular biology and diagnosis]
| Autor: | Edgar Hernández-Zamora, César Zavala-Hernández, Elba Reyes-Maldonado, Sandra Quintana-González |
|---|---|
| Rok vydání: | 2013 |
| Předmět: |
biology
business.industry Genetic counseling Ocean Engineering Disease medicine.disease Molecular biology Phenotype von Willebrand Diseases Von willebrand Von Willebrand factor Coagulation hemic and lymphatic diseases von Willebrand Factor biology.protein Von Willebrand disease medicine Enfermedad de von Willebrand Humans Factor de von Willebrand business von Willebrand disease Chromosome 12 circulatory and respiratory physiology |
| Zdroj: | Cirugia y cirujanos. 83(3) |
| ISSN: | 2444-054X |
| Popis: | Background von Willebrand disease is the most common inherited disorder of the coagulation proteins in humans. There are three types: 1, 2A, 2B, 2N, 2M and 3. It is associated with mutations on chromosome 12 in the region p13.2, encoding the von Willebrand factor (VWF), which is synthesised in endothelial cells and megakaryocytes. Discussion The VWF gene has been characterised using molecular biology techniques, which have acquired an important role in diagnosis of von Willebrand disease, as well as in the investigation of alterations in other genes, which may be involved in regulating the synthesis, processing, and secretion of VWF. However, there are still no strategies to integrate the molecular biology diagnostic tests available. Analysis of VWF multimers is a methodology that meets the characteristics for diagnosis, but it is not easy to standardise. Considering that even in tertiary centres in our country, von Willebrand patients do not have a definitive diagnosis, it is necessary to implement these methodologies to study and improve diagnosis. Conclusions von Willebrand disease is highly heterogeneous due to the molecular mechanisms that produce the various clinical and laboratory phenotypes. In Mexico there are few studies related to this disease; therefore it is essential to conduct a comprehensive study including clinical, basic, and special testing laboratory tests, in order to establish a correct diagnosis, develop new therapeutic approaches, and offer the appropriate medical care and genetic counselling. |
| Databáze: | OpenAIRE |
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