Increases in computationally predicted deleterious variants of unknown significance and sperm mtDNA copy numbers may be associated with semen quality

Discussion and conclusionThe increases in the number of computationally predicted deleterious VUS and mtDNA copies in spermatozoa may be associated with semen quality. Exposure to environmental mutation pressure that causes novel mtDNA variants with low-level heteroplasmy may occur during spermatogenesis. Furthermore, when a certain harmful threshold is reached, male germ cells may degrade mtDNA with mutations and replicate the correct mtDNA sequence to maintain the mitochondrial function in spermatozoa.

Source: Andrology - August 26, 2023 Category: Urology & Nephrology Authors: Yuze Pi, Zhuo Huang, Xilin Xu, Huan Zhang, Miao Jin, Shuoping Zhang, Ge Lin, Liang Hu Tags: ORIGINAL ARTICLE Source Type: research