KIF21A mRNA over-expression in patients with Down syndrome

Men with Down's syndrome (DS) have an increased risk of cryptorchidism, bui thè mechanisms causing its onset are not clear. Cryptorchidism causcs a primary testiculopathy responsible for infertility. SPAG5 mRNA is predominanti; expressed in testis in pachytene spermatocytes. This observation prompted us to evaluate thè expression of SPAG5 gene in rive DS men with cryptorchidism and five normal healthy men (controls) by quantitative real-time PCR in peripheral blood leukocytes. We found that SPAG5 is over expressed in thè five men with DS and cryptorchidism compared with five age- and sex-matched normal controls. This finding suggests that thè increased expression of this gene may play a pathogenic role durin testicular development in subjects with DS and cryptorchidism