Pathogenic mechanism of male infertility caused by peroxisomal DBP deficiency

Author : Wang Jia

Abstract :Peroxisomes play a variety of roles in beta-oxidation of fatty acids, where long-chain fatty acids are shortened before entering the mitochondria for further metabolic processes. DBP deficiency is due to peroxisomal protein disorders. Adult patients with DBP deficiency are usually infertile, and the specific pathogenic mechanism is not yet clear. Here, we employ a Drosophila DBP deficiency model combined with scRNA-seq to study the pathogenic mechanism of male infertility in DBP deficient animals. We find that spermatogonia and spermatocytes in mutants undergo cell cycle arrest and display cytokinesis defect. Lipidomic analysis shows that almost all lipid derivatives decrease in mutant testes, including phospholipids and sterols, which are the main lipid molecules of the biofilm system. We also find that the signal of PIP2 and PIP3 on the contractile ring membrane in spermatocytes is weaker as compared to the wild type counterparts. These results shed lights on our understanding of the molecular mechanism of male infertility caused by peroxisomal DBP deficiency

Keywords :DBP deficiency, Male infertility, scRNA-seq, Drosophila testis, Cytokinesis

Conference Name :International Conference on Animal Genetics and Development (ICAGD-25)

Conference Place Singapore, Singapore

Conference Date 31st May 2025