TY - JOUR
T1 - von Willebrand disease, molecular biology and diagnosis夽
AU - Hernández-Zamora, Edgar
AU - Zavala-Hernández, Cesar
AU - Quintana-González, Sandra
AU - Reyes-Maldonado, Elba
N1 - Publisher Copyright:
© 2015 Academia Mexicana de Cirugía A.C. Published by Masson Doyma México S.A. This is an open access article under the CC BY-NC-ND license
PY - 2015/6
Y1 - 2015/6
N2 - 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.
AB - 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.
KW - Von Willebrand disease; Von Willebrand factor
UR - http://www.scopus.com/inward/record.url?scp=84942908966&partnerID=8YFLogxK
U2 - 10.1016/J.CIRCEN.2015.09.024
DO - 10.1016/J.CIRCEN.2015.09.024
M3 - Artículo
C2 - 26055290
SN - 0009-7411
VL - 83
SP - 255
EP - 264
JO - Cirugia y Cirujanos (English Edition)
JF - Cirugia y Cirujanos (English Edition)
IS - 3
ER -