Advanced age increases chromosome structural abnormalities in human spermatozoa

Cristina Templado (1) , Anna Donate (1) , Jesús Giraldo (1) , Mercè Bosch (1) , Anna Estop (1)

1 Biologia cel.lular, Fisiologia i Immunologia

This study explores the relationship between sperm structural aberrations and age by utilizing a multi-color-multi-chromosome FISH strategy that provides information on the incidence of duplications and deletions on all the autosomes. TelVysion kit (Vysis) with telomere specific probes was used. We investigated the sperm of 10 male donors aged from 23 to 74 years old. The donors were divided into two groups according to age: a cohort of 5 individuals younger than 40 and a cohort of 5 individuals older than 60. The goal of this study was to determine: 1) the relationship between donor age and frequency and type of chromosome structural abnormalities and 2) chromosomes more frequently involved in sperm structural aberrations. We found that the older patients had a higher rate of structural abnormalities (6.6%) compared to the younger cohort (4.9%). Although both duplications and deletions were seen more frequently in older men, our findings demonstrate the presence of an excess of duplications versus deletions in both groups at a ratio of 2 to 1. We demonstrate that the distribution of duplications and deletions was not linear along the chromosomes, although a trend towards a higher rate of abnormalities in larger chromosomes was observed. This work is the first study addressing the frequencies of sperm chromosome structural aberrations of all autosomes in a single assay thus making a contribution to the clarification of the amount and origin of damage present in human spermatozoa and in relation to age.

Mots clés: paternal age; aneuploidy; spermatozoa

Cristina Templado, Anna Donate, Jesús Giraldo, Mercè Bosch, Anna Estop. Advanced age increases chromosome structural abnormalities in human spermatozoa. European Journal of Human Genetics, 2010, ⟨10.1038/ejhg.2010.166⟩. ⟨hal-00589964⟩