Single nucleotide polymorphisms of the heat shock protein 90 gene in varicocele-associated infertility
Int. braz. j. urol
; 31(3): 236-244, May-June 2005. ilus
Article
in English
| LILACS
| ID: lil-411098
Responsible library:
BR1.1
RESUMO
PURPOSE:
Varicoceles are associated with impaired testicular function and male infertility, but the molecular mechanisms by which fertility is affected have not been satisfactorily explained. Spermatogenesis might be affected by increased scrotal temperature, such as that caused by varicocele. HSP90 is a molecular chaperone expressed in germ cells and is related to spermatogenesis, motility, and both heat and oxidative stress. Possible correlations between coding single region nucleotide polymorphisms (cSNPs) in the HSP90 gene in patients with varicocele associated with infertility were analyzed, and polymorphisms in these exons were characterized through DNA sequencing. MATERIALS ANDMETHODS:
PCR-SSCP and DNA sequencing were used to search for mutations in 18 infertile patients with varicocele, 11 patients with idiopathic infertility and 12 fertile men. DNA was extracted from leucocytes for PCR amplification and SSCP analysis. DNA from samples with an altered band pattern in the SSCP was then sequenced to search for polymorphisms.RESULTS:
Three silent polymorphisms that do not lead to amino acid substitutions were identified.CONCLUSION:
Mutations in the HSP90 gene do not appear to be a common cause of male factor infertility. The low incidence of gene variation, or SNPs, in infertile men demonstrates that this gene is highly conserved and thus confirms its key role in spermatogenesis and response to heat stress.
Full text:
Available
Collection:
International databases
Database:
LILACS
Main subject:
Varicocele
/
HSP90 Heat-Shock Proteins
/
Polymorphism, Single Nucleotide
/
Infertility, Male
/
Mutation
Type of study:
Observational study
/
Prognostic study
/
Risk factors
Limits:
Humans
/
Male
Language:
English
Journal:
Int. braz. j. urol
Journal subject:
Urology
Year:
2005
Document type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
Federal University of Sao Paulo/BR