Study question: Is there a relationship between DNA damage and numerical chromosome abnormalities in the sperm of infertile patients? Summary answer: A strong link between DNA fragmentation and the presence of numerical chromosome abnormalities was detected in human sperm. Chromosomally abnormal spermatozoa were more likely to be affected by DNA fragmentation than those that were chromosomally normal. What is known already: Several studies have described the presence of elevated levels of DNA damage or chromosome defects in the sperm of infertile or subfertile men.
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Y chromosome infertility
Impact of DNA Damage on the Frequency of Sperm Chromosomal Aneuploidy in Normal and Subfertile Men
New research indicates that the genetic quality of sperm worsens as men get older, increasing a man's risk of being infertile, fathering unsuccessful pregnancies and passing along dwarfism and possibly other genetic diseases to his children. A study led by scientists at Lawrence Livermore National Laboratory LLNL and the University of California, Berkeley, found a steady increase in sperm DNA fragmentation with increasing age of the study participants, along with increases in a gene mutation that causes achondroplasia, or dwarfism. The first changes were observed in men in their early reproductive years. Earlier research by the same team indicated that male reproductive ability gradually worsens with age, as sperm counts decline and the sperm lose motility and their ability to swim in a straight line. In the current study, the researchers analyzed DNA damage, chromosomal abnormalities and gene mutations in semen samples from the same subjects -- 97 healthy, non-smoking LLNL employees and retirees between 22 and 80 years old -- and found that sperm motility showed a high correlation with DNA fragmentation, which is associated with increased risk of infertility and a reduced probability of fathering a successful pregnancy.
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Topology of chromosome centromeres in human sperm nuclei with high levels of DNA damage
Metrics details. Non-random chromosome positioning has been observed in the nuclei of several different tissue types, including human spermatozoa. The nuclear arrangement of chromosomes can be altered in men with decreased semen parameters or increased DNA fragmentation and in males with chromosomal numerical or structural aberrations.
McAuliffe, P. Williams, S. Korrick, R. Dadd, F.