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Background

An insufficient stress response due to a genetically impaired heat shock protein (Hsp) could play a role in the pathogenesis in a subgroup of sudden infant death syndrome (SIDS) cases. Herein, we are the first to investigate whether a functionally impairing and thus pathogenic variant of the gene for Hsp60, encoded by HSPD1 (rs72466451), is correlated with the occurrence of SIDS.

Methods

In a case-control study of a series of 133 cases of SIDS and 192 gender-matched German Caucasian control cases, the occurrence and distribution of the HSPD1 single-nucleotide variant (SNV) was analyzed using SNV genotyping by minisequencing.

Results

The results show significantly increased frequency of the pathogenic variant of the HSPD1 SNV in a subgroup (4.5%) of SIDS cases.

Conclusion

The results suggest that the pathogenic variant of rs72466451 may play a role in a subgroup of SIDS cases with impaired Hsp60-mediated stress response."xsd:string
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http://purl.uniprot.org/citations/23823174http://purl.uniprot.org/core/author"Madea B."xsd:string
http://purl.uniprot.org/citations/23823174http://purl.uniprot.org/core/author"Courts C."xsd:string
http://purl.uniprot.org/citations/23823174http://purl.uniprot.org/core/author"Grabmuller M."xsd:string
http://purl.uniprot.org/citations/23823174http://purl.uniprot.org/core/date"2013"xsd:gYear
http://purl.uniprot.org/citations/23823174http://purl.uniprot.org/core/name"Pediatr Res"xsd:string
http://purl.uniprot.org/citations/23823174http://purl.uniprot.org/core/pages"380-383"xsd:string
http://purl.uniprot.org/citations/23823174http://purl.uniprot.org/core/title"Functional single-nucleotide variant of HSPD1 in sudden infant death syndrome."xsd:string
http://purl.uniprot.org/citations/23823174http://purl.uniprot.org/core/volume"74"xsd:string
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