Document Detail


Impact of sodium/proton exchanger 3 gene variants on sudden infant death syndrome.
MedLine Citation:
PMID:  19772970     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
OBJECTIVE: To determine the contribution of variations in the sodium/proton exchanger 3 (NHE3) gene in sudden infant death syndrome (SIDS). STUDY DESIGN: Variations in the exons and promoter of the NHE3 gene were analyzed with direct sequencing analysis and mini sequencing (SNaPshot analysis) in 251 cases of SIDS, plus 50 infant control subjects who had died of other causes, and 170 healthy adults. RESULTS: The C2405T variant (exon 16) and 2 polymorphisms in the promoter (G1131A and C1197T) were encountered significantly more frequently in cases of SIDS than in control subjects. At least 1 of these 3 variants was detected in 49% of SIDS cases, but only in 30% of control subjects. CONCLUSIONS: Our findings suggest the involvement of polymorphisms in the NHE3 gene and promoter in cases of SIDS, which may result in an overexpression of NHE3 in the medulla oblongata and which possibly leads to a disturbance in breathing control. Furthermore, our results underline the heterogeneous character of SIDS.
Authors:
Micaela Poetsch; Bente J Nottebaum; Lisa Wingenfeld; Stilla Frede; Mechtild Vennemann; Thomas Bajanowski
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  The Journal of pediatrics     Volume:  156     ISSN:  1097-6833     ISO Abbreviation:  J. Pediatr.     Publication Date:  2010 Jan 
Date Detail:
Created Date:  2009-12-16     Completed Date:  2010-02-17     Revised Date:  2010-08-30    
Medline Journal Info:
Nlm Unique ID:  0375410     Medline TA:  J Pediatr     Country:  United States    
Other Details:
Languages:  eng     Pagination:  44-48.e1     Citation Subset:  AIM; IM    
Affiliation:
Institute of Forensic Medicine, University Hospital Essen, Essen, Germany. micaela.poetsch@uk-essen.de
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MeSH Terms
Descriptor/Qualifier:
Exons / genetics
Female
Gene Expression Regulation / physiology
Genetic Variation*
Humans
Infant
Male
Medulla Oblongata
Molecular Sequence Data
Promoter Regions, Genetic / genetics
Sodium-Hydrogen Antiporter / genetics*
Sudden Infant Death / genetics*
Chemical
Reg. No./Substance:
0/Sodium-Hydrogen Antiporter; 0/sodium-hydrogen exchanger 3
Comments/Corrections
Comment In:
J Pediatr. 2010 Sep;157(3):516; author reply 516-7   [PMID:  20646713 ]

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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