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.
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.
Authors: Noha El-Kashef; Iva Gomes; Katja Mercer-Chalmers-Bender; Peter M Schneider; Markus A Rothschild; Martin Juebner Journal: Int J Legal Med Date: 2017-07-17 Impact factor: 2.686