Abstract
Primary ciliary dyskinesia (PCD), a disease caused by the malfunction of motile cilia, manifests mainly with chronic recurrent respiratory infections. In men, PCD is also often associated with infertility due to immotile sperm. Since causative mutations for PCD were identified in over 50 genes, the role of these genes in sperm development should be investigated in order to understand the effect of PCD mutations on male fertility. Previous studies showed that different dynein arm heavy chains are present in respiratory cilia and sperm flagellum, which may partially explain the variable effects of mutations on airways and fertility. Furthermore, recent studies showed that male reproductive tract motile cilia may play an important part in sperm maturation and transport. In some PCD patients, extremely low sperm counts were reported, which may be due to motile cilia dysfunction in the reproductive tract rather than problems with sperm development. However, the exact roles of PCD genes in male fertility require additional studies, as do the treatment options. In this review, we discuss the diagnostic and treatment options for men with PCD based on the current knowledge.
Highlights
Primary ciliary dyskinesia (PCD) is caused by mutations in the genes required for motile axoneme formation and function
The sperm tail is connected to the head through the head-tail coupling apparatus (HTCA), which is formed by the modification of the centrosomes and the formation of supporting structures to connect the tail to the implantation fossa of the nuclear membrane [10,11]
This further supports the hypothesis of different dynein arm complexes in sperm and motile cilia, which has been suggested by reported variable fertility in PCD patients with mutations in genes coding for ODA [20,31,36,37]
Summary
Primary ciliary dyskinesia (PCD) is caused by mutations in the genes required for motile axoneme formation and function. The N-DRC complex forms connections with other axonemal complexes within the ciliary unit and, likely plays a role of a main regulatory hub [2] These structures are present in the sperm tail axoneme and are required for sperm motility and, for male fertility. Diagnostics 2021, 11, 1550 Diagnostics 2021, 11, 1550 the axonemal protein complexes may differ in protein content between motile cilia types, which was recently demonstrated by the identification of sperm tail specific dynein heavy chains [12,13]. Dififnertehnecseesginenaesssecmanblbyemeexcpheacnteisdmtsoecxaiusts.eAmlaaclek ionffderytnileitiyn a(Frmiguprreea2s,s[e3m4]b)l,yafltahcotourgThTdCi1ff2erreseunlctessininIDasAseamnbdlyODmAechloasnsisinmsspeexrimst.flAaglealclukmo,f bduytnoeninlyaprmartpiarlelaossssemofbIlDy Afacintomr oTtTilCe12 cilia [35] This further supports the hypothesis of different dynein arm complexes in sperm and motile cilia, which has been suggested by reported variable fertility in PCD patients with mutations in genes coding for ODA [20,31,36,37]
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
