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Genomic imprinting in disruptive spermatogenesis

May 20, 2004

Low sperm counts could be associated with genomic imprinting disease and could carry a raised risk of transmitting imprinting defects following assisted reproductive technologies, claim researchers in this week's issue of THE LANCET.

Genomic imprinting is a gene regulatory mechanism based on differential methylation, whereby only one of two parental alleles is expressed. Imprinting disorders can lead to abnormal fetal development and malignant disease, and have been previously noted in oocytes (Lancet 2003; 361: 1975-77), but this is the first report showing imprinting defects in sperm.

To investigate whether abnormal genomic imprinting could be associated with disturbed spermatogenesis, Professor Mario Sousa and colleagues extracted sperm DNA from 123 men with low or normal sperm counts. All the men with normal sperm counts had correct methylation, whereas 24% of those with low sperm counts showed methylation defects in their profiles. The less healthy the sperm, the more imprinting defects were observed.

Professor Sousa comments: "Our data suggest an association between abnormal genomic imprinting and hypospermatogenesis, and that spermatozoa from oligozoospermic patients carry a raised risk of transmitting imprinting errors."
-end-
Lancet 2004; 363: 1700-02

Contact: Prof M Sousa, Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar, University of Porto, 4099-003 Porto, Portugal;
T) 351-22-206-2217;
F) 351-22-206-2232;
E) msousa@icbas.up.pt

Lancet

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