28 اردیبهشت 1403
رضا محمد زاده

رضا محمد زاده

مرتبه علمی: استادیار
نشانی:
تحصیلات: دکترای تخصصی / زیست شناسی - ژنتیک مولکولی
تلفن:
دانشکده: دانشکده علوم پایه

مشخصات پژوهش

عنوان
Spermatogenesis disorder is associated with mutations in the ligand‐binding domain of an androgen receptor
نوع پژوهش مقاله چاپ شده
کلیدواژه‌ها
androgen receptor, homology modelling, idiopathic infertility, nucleotide polymorphisms
سال
2019
مجله ANDROLOGIA
شناسه DOI DOI: 10.1111/and.13376
پژوهشگران نفیسه حسنی ، آناهیتا محسنی میبدی ، عالمه رفایی ، محمدعلی صادقی ، رضا محمد زاده ، مرجان صباغیان

چکیده

Androgens play a key role in spermatogenesis, and their functions are mediated by the androgen receptor (AR). Some mutations in the AR gene have the potential to alter the primary structure and function of the protein. The aim of this study was to investigate the AR gene mutations in a cohort of males with idiopathic azoospermia referred to Royan Institute. Fifty‐one biopsy samples were obtained for routine clini‐ cal purposes from 15 men with hypospermatogenesis (HS), 17 patients with matu‐ ration arrest (MA) and 19 patients with Sertoli cell‐only syndrome (SCOS). The AR cDNAs were prepared from tissue mRNAs and were sequenced. One synonymous variant and three nonsynonymous protein coding single nucleotide polymorphisms (nsSNPs) were detected. Protein structure prediction demonstrated that the S815I and M746T nonsynonymous variants would affect protein structure and its normal function. Our study suggests that mutations in the AR gene would change or disturb the receptor's normal activity. Although these variations may influence spermato‐ genesis, it is difficult to say that they lead to a lack of spermatogenesis.