Gene Alterations and Expression Spectrum of NANOS3 in Nonobstructive Azoospermia

• Published in: Reproductive sciences (Thousand Oaks, Calif.) Calif.), 2022, Vol.29 (1), p.92-99
• Main Authors: Karimi, Hamideh, Boroujeni, Parnaz Borjian, Sabbaghian, Marjan, Meybodi, Anahita Mohseni
• Format: Article
• Language: English
• Subjects: Adult; Azoospermia - genetics; Azoospermia - metabolism; Case-Control Studies; Embryology; Fertility - genetics; Gene Expression; Humans; Male; Medicine; Medicine & Public Health; Middle Aged; Obstetrics/Perinatology/Midwifery; Reproductive Genetics: Original Article; Reproductive Medicine; RNA-Binding Proteins - genetics; RNA-Binding Proteins - metabolism; Spermatogenesis - genetics; Testis - metabolism
• ISSN: 1933-7191; 1933-7205
• DOI: 10.1007/s43032-021-00680-6

Nanos3, a zinc finger RNA-binding protein, suppresses the apoptosis in primordial germ cells (PGCs) during migration to gonads and maintains the PGC population. The genetic variations and expression of NANOS3 in patients with non-obstructive azoospermia (NOA) were evaluated in this study. The study included 100 idiopathic infertile men with NOA and 100 fertile men as the as the case and control groups, respectively. NANOS3 gene variations were analyzed using the standard polymerase chain reaction (PCR) and sequencing. For mRNA and protein expression analysis, testicular biopsy specimens from 27 patients including 9 obstructive azoospermia (OA), 9 maturation arrest (MA), and 9 Sertoli cell-only syndromes (SCOS) were collected and evaluated using the real-time PCR technique and immunohistochemistry. Although the evaluation of the 5`UTR regulatory region has shown the significant difference in the numbers of TG repeats in rs11182456 between groups, the odd ratio was not strong enough to consider that as a certain risk factor lead to azoospermia and infertility. Meanwhile, NANOS3 expression at mRNA level had a significant difference among OA, SCOS, and MA groups.