The study showed, for the first time, that disturbances in the so-called piRNA pathway are an “overlooked” cause of sperm production dysfunction.
RNA is a single-stranded molecule made up of nucleotides found in every cell of an organism, and acts as a carrier of genetic information. PiRNA refers to specialized, very small RNA fragments found in the testes that help suppress the activity of transposons, also known as jumping genes.
The piRNA pathway has been largely studied in mice, with limited data on humans, the researchers explained.
In the new study, researchers analyzed the DNA of more than 2,000 infertile men, looking for differences in piRNA pathway genes.
The research team identified 39 men who had variations in 14 piRNA genes.
The results reveal that misregulation of piRNAs is a more common cause of male infertility.
The team discovered an increased number of transposons in some patients with piRNA variants.
“The greater number of jumping genes in cells leads to genetic instability, which results in various disorders of sperm production, from abnormal shapes to the complete absence of sperm,” says Professor Frank Tutelmann, co-author of the study.
The results will help provide an accurate diagnosis to more men in the future, providing relief to many who have faced years of uncertainty.
The study was published in the journal Nature Communications.
Source: Medical Express
#Important #Genetic #Male #Infertility #Identified
2024-08-26 00:48:10
