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@proceedings{989333,
author = {Šplíchal, Zbyněk and Fauveau, Laëtitia and Bienertová Vašků, Julie and Tomandl, Josef and Tomandlová, Marie and Hodická, Zuzana and Ventruba, Pavel and Vašků, Anna and Bienert, Petr},
booktitle = {European Human Genetics Conference 2012},
keywords = {adipophilin; breastfeeding; breast milk},
language = {eng},
title = {Adipophilin (ADRP/ADPH/PLIN2): Variability in Exonic Regions and Secretion of Adipophilin into Breast Milk},
year = {2012}
}
TY - CONF
ID - 989333
AU - Šplíchal, Zbyněk - Fauveau, Laëtitia - Bienertová Vašků, Julie - Tomandl, Josef - Tomandlová, Marie - Hodická, Zuzana - Ventruba, Pavel - Vašků, Anna - Bienert, Petr
PY - 2012
TI - Adipophilin (ADRP/ADPH/PLIN2): Variability in Exonic Regions and Secretion of Adipophilin into Breast Milk
KW - adipophilin
KW - breastfeeding
KW - breast milk
N2 - Introduction: Adipophilin (ADRP/ADPH/PLIN2), a member of the perilipin (PAT) family of lipid droplet proteins, is believed to play a crucial role in both formation and secretion of milk lipids in mammals. The aim of our study was to determine whether adipophilin is secreted into human breast milk and to associate adipophilin levels in breast milk with the exonic variations of the adipophilin gene. Material and methods: The total of 20 pregnant women with physiological pregnancy, originating from the Caucasian Central-European population, were enrolled into the study and serum-milk sample duos were collected at the time of birth and at the days 1-3, 12-14, 28-30, 88-90 and 178-180 postpartum and investigated using ELISA-based methodology. The exons 3-7 of the PLIN2 gene were directly sequenced.Results: Adipophilin was constantly secreted into breast milk during the whole period of the study. The maternal serum circulating levels were extremely low (<0.8 ug/l), while the adipophilin levels in breast milk substantially exceeded serum levels at the given timepoints (p = 0.03). Two SNPs in exonic sequence of PLIN2 gene were identified, synonymous rs2228416 and missense rs35568725 that were not associated with maternal serum / breast milk levels of adipophilin. Conclusion: This is the first study to demonstrate that adipophilin is secreted into human breast milk during the whole 6 months after the birth. We do not report major association of investigated exonic variations of PLIN2 gene with adipophilin levels in maternal serum / breast milk in the Central- European population.
ER -
ŠPLÍCHAL, Zbyněk, La$\backslash$''etitia FAUVEAU, Julie BIENERTOVÁ VAŠKŮ, Josef TOMANDL, Marie TOMANDLOVÁ, Zuzana HODICKÁ, Pavel VENTRUBA, Anna VAŠKŮ and Petr BIENERT. Adipophilin (ADRP/ADPH/PLIN2): Variability in Exonic Regions and Secretion of Adipophilin into Breast Milk. In \textit{European Human Genetics Conference 2012}. 2012.
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