Asunto(s)
Autoanticuerpos/inmunología , Proteínas Portadoras/inmunología , Labio Leporino/inmunología , Fisura del Paladar/inmunología , Receptores de Superficie Celular/inmunología , Adulto , Autoanticuerpos/sangre , Estudios de Casos y Controles , Labio Leporino/sangre , Labio Leporino/genética , Fisura del Paladar/sangre , Fisura del Paladar/genética , Femenino , Receptores de Folato Anclados a GPI , Ácido Fólico/sangre , Homocisteína/sangre , Humanos , Metilenotetrahidrofolato Reductasa (NADPH2)/genética , Polimorfismo Genético , EmbarazoRESUMEN
The role of natural folate intake and synthetic folic acid supplementation in the prevention of some congenital malformations is known, but on a molecular biological level poorly understood. In a first approach to identify folate-regulated pathways in human embryogenesis, tryptic digests of Epstein Barr Virus-immortalized B-lymphoblasts proteins from 6 cleft lip and/or palate patients and 2 controls were compared using matrix assisted laser desorption ionisation--time of flight (MALDI-TOF) mass spectrometry. After immortalisation, the lymphoblasts were cultured for 22 days in folate-rich, i.e. 5-methyltetrahydrofolate (5-mTHF), or folate-free medium. On day 22, 5-mTHF was added to the folate-free cultures and the profiles on day 22 and 23 were compared. After background correction for the peptide profiles of the folate-rich cultures, we found in the folate-free mediaseveral differentially expressed peptide peaks upon addition of 5-mTHF. These peptide peaks were mass annotated and matched withthe MSDB human database. The results suggest some folate-regulated protein candidates as Frizzled and the Rho GTP-ases WRCH and Chp that are known in human embryogenesis. Differential folate expressed proteins in patients and controls, however, have to be further investigated.