Health Male Infertility and denovo mutations

[Angela]

See:
https://www.biorxiv.org/content/10.1101/2021.02.27.433155v1

"[FONT=&quot]De novo mutations (DNMs) are known to play a prominent role in sporadic disorders with reduced fitness. We hypothesize that DNMs play an important role in male infertility and explain a significant fraction of the genetic causes of this understudied disorder. To test this hypothesis, we performed trio-based exome-sequencing in a unique cohort of 185 infertile males and their unaffected parents. Following a systematic analysis, 29 of 145 rare protein altering DNMs were classified as possibly causative of the male infertility phenotype. We observed a significant enrichment of Loss-of-Function (LoF) DNMs in LoF-intolerant genes (p-value=1.00x10-5) as well as predicted pathogenic missense DNMs in missense-intolerant genes (p-value=5.01x10-4). One DNM gene identified, RBM5, is an essential regulator of male germ cell pre-mRNA splicing. In a follow-up study, 5 rare pathogenic missense mutations affecting this gene were observed in a cohort of 2,279 infertile patients, with no such mutations found in a cohort of 5,784 fertile men (p-value=0.009). Our results provide the first evidence for the role of DNMs in severe male infertility and point to many new candidate genes affecting fertility."

I'm reminded of all the papers indicating that it is men not women who accumulate more mutations with age.[/FONT]

 

[jerisert]

Unfortunately, the problem of infertility is familiar to more and more families

 

[Angela]

I saw an alarming analysis the other day claiming an extreme drop in male fertility over the past decades. I have no idea what the cause could be, although the fact that it was more present in "first world" countries leads me to believe it might be something environmental. I know people have speculated that it might be plastics in the environment, but I wonder if it's electronics or computer screens; all the gaming that young men do which causes mutations.

There's also the well known rise in primary brain tumors, and high tension electricity poles, cell phones, etc. have been implicated.

 

[bigsnake49]

I saw an alarming analysis the other day claiming an extreme drop in male fertility over the past decades. I have no idea what the cause could be, although the fact that it was more present in "first world" countries leads me to believe it might be something environmental. I know people have speculated that it might be plastics in the environment, but I wonder if it's electronics or computer screens; all the gaming that young men do which causes mutations.

There's also the well known rise in primary brain tumors, and high tension electricity poles, cell phones, etc. have been implicated.

I would speculate that it is insecticides and herbicides in our food supply. I would also ascribe it to the tendency of having kids later in life in the so called first world.