a 2012

Adipophilin (ADRP/ADPH/PLIN2): Variability in Exonic Regions and Secretion of Adipophilin into Breast Milk

ŠPLÍCHAL, Zbyněk, Laëtitia FAUVEAU, Julie BIENERTOVÁ VAŠKŮ, Josef TOMANDL, Marie TOMANDLOVÁ et. al.

Basic information

Original name

Adipophilin (ADRP/ADPH/PLIN2): Variability in Exonic Regions and Secretion of Adipophilin into Breast Milk

Name in Czech

Adipofilin (ADRP/ADPH/PLIN2): variabilita v exonických oblastech v souvislosti se sekrecí adipofilinu do mateřského mléka

Authors

ŠPLÍCHAL, Zbyněk (203 Czech Republic), Laëtitia FAUVEAU (250 France), Julie BIENERTOVÁ VAŠKŮ (203 Czech Republic, guarantor, belonging to the institution), Josef TOMANDL (203 Czech Republic), Marie TOMANDLOVÁ (203 Czech Republic), Zuzana HODICKÁ (203 Czech Republic), Pavel VENTRUBA (203 Czech Republic), Anna VAŠKŮ (203 Czech Republic) and Petr BIENERT (203 Czech Republic)

Edition

European Human Genetics Conference 2012, 2012

Other information

Language

English

Type of outcome

Konferenční abstrakt

Field of Study

30214 Obstetrics and gynaecology

Country of publisher

Czech Republic

Confidentiality degree

není předmětem státního či obchodního tajemství

RIV identification code

RIV/00216224:14110/12:00060618

Organization unit

Faculty of Medicine

Keywords (in Czech)

adipofilin; kojení; mateřské mléko

Keywords in English

adipophilin; breastfeeding; breast milk

Tags

International impact, Reviewed
Změněno: 25/3/2013 09:25, Ing. Mgr. Věra Pospíšilíková

Abstract

V originále

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.

In Czech

Jedná se o první studii prokazující, že adipofilin je u člověka secernován do mateřského mléka, nepozorovali jsme významnou souvislosti mezi nalezenými SNP v exonických oblastech genu pro adipofilin a jeho sekrecí do mléka.

Links

MUNI/A/0831/2011, interní kód MU
Name: Příspěvek chemických a biochemických metodik ke studiu molekulární podstaty vybraných patologických stavů a onemocnění
Investor: Masaryk University, Category A