Single nucleotide polymorphisms of the heat shock protein 90 gene in varicocele-associated infertility

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...

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Main Authors: Pericles A. Hassun Filho, Agnaldo P. Cedenho, Samira B. Lima, Valdemar Ortiz, Miguel Srougi
Format: Article
Language:English
Published: Sociedade Brasileira de Urologia 2005-06-01
Series:International Brazilian Journal of Urology
Subjects:
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1677-55382005000300007
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author Pericles A. Hassun Filho
Agnaldo P. Cedenho
Samira B. Lima
Valdemar Ortiz
Miguel Srougi
author_facet Pericles A. Hassun Filho
Agnaldo P. Cedenho
Samira B. Lima
Valdemar Ortiz
Miguel Srougi
author_sort Pericles A. Hassun Filho
collection DOAJ
description 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 AND METHODS: 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.
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spelling doaj.art-57f034e864904a348f7c204272e52be22022-12-21T18:49:36ZengSociedade Brasileira de UrologiaInternational Brazilian Journal of Urology1677-55381677-61192005-06-0131323624410.1590/S1677-55382005000300007Single nucleotide polymorphisms of the heat shock protein 90 gene in varicocele-associated infertilityPericles A. Hassun FilhoAgnaldo P. CedenhoSamira B. LimaValdemar OrtizMiguel SrougiPURPOSE: 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 AND METHODS: 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1677-55382005000300007varicoceleheat stressHeat-Shock Protein 90spermatozoainfertilitygenetic polymorphism
spellingShingle Pericles A. Hassun Filho
Agnaldo P. Cedenho
Samira B. Lima
Valdemar Ortiz
Miguel Srougi
Single nucleotide polymorphisms of the heat shock protein 90 gene in varicocele-associated infertility
International Brazilian Journal of Urology
varicocele
heat stress
Heat-Shock Protein 90
spermatozoa
infertility
genetic polymorphism
title Single nucleotide polymorphisms of the heat shock protein 90 gene in varicocele-associated infertility
title_full Single nucleotide polymorphisms of the heat shock protein 90 gene in varicocele-associated infertility
title_fullStr Single nucleotide polymorphisms of the heat shock protein 90 gene in varicocele-associated infertility
title_full_unstemmed Single nucleotide polymorphisms of the heat shock protein 90 gene in varicocele-associated infertility
title_short Single nucleotide polymorphisms of the heat shock protein 90 gene in varicocele-associated infertility
title_sort single nucleotide polymorphisms of the heat shock protein 90 gene in varicocele associated infertility
topic varicocele
heat stress
Heat-Shock Protein 90
spermatozoa
infertility
genetic polymorphism
url http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1677-55382005000300007
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