Altered mRNA profile in testis of patients with“secondary idiopathic non-obstructive azoospermia”
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ABSTRACT:
PROVIDER: PRJNA788390 | ENA |
REPOSITORIES: ENA
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Project description:Background: Non-obstructive azoospermia (NOA) is the most severe form of male infertility. Currently known causative factors, including congenital and several acquired causes can only account for approximately 30% of NOA cases. Causes for most patients with NOA remains unclear, which were known as idiopathic NOA (iNOA). However, whether iNOA is congenital defects or acquired abnormalities is a confusing problem due to the delayed diagnosis of this frustrating situation until childbearing age. Materials and Methods: In this study, several patients who were diagnosed as iNOA at this stage, but with a history of natural conceptions with female before were enrolled and defined as “secondary idiopathic NOA”. As little was known about these cases, we performed the mRNA expression profiling by Next-generation sequencing (NGS) in this three patients and other three patients with obstructive azoospermia (OA) as controls. Results: A series of mRNAs were found to be altered in testicular tissues between “secondary idiopathic NOA” and controls, including 6028 downregulated and 3402 upregulated mRNAs. GO analysis and KEGG analysis revealed a range of GO and KEGG terms, such as cellular process involved in reproduction, protein digestion and absorption, etc. Conclusion: Overall, this study introduces a novel classification called “secondary idiopathic NOA” in iNOA. We provide a global view of the altered mRNAs involved in spermatogenetic failure in these cases.
2022-06-01 | GSE190752 | GEO
Project description:The project aimed to compare testicular proteomes from patients with obstructive and non-obstructive azoospermia in order to identify molecular signatures involved in spermatogenesis as well to identify candidate biomarkers for discriminating between different types of azoospermia. The samples used in this study were formalin fixed paraffin embedded (FFPE) testicular tissues obtained by biopsy from men with clinical diagnosis of azoospermia. Samples were grouped according to the histopathological report in 3 groups: 1) Spermatogenesis (obstructive azoospermia), 2) Hypospermatogenesis and 3) Sertoli cell only syndrome (SCO). Patients were aged 31–46 years with no differences among groups regarding age (Median age (Hypospermatogenesis) =35; Median age (SCO) =34 and Median age (Spermatogenesis) =39). Each group had 9 samples or 27 samples in total were used for the comparative proteomics analysis by label-free data-independent LC-MS/MS.
2022-07-31 | PXD032722 | Pride
Project description:To investigate in situ transcriptome of spermatocytes in non-obstructive azoospermia , we microdissected spermatocytes in formalin-fixed paraffin-embedded testicular biopsy tissue from two types of non-obstructive azoospermia and obstructive azoospermia as a control, and then constructed cDNA libraries based on Smart-3SEQ method.
2023-08-02 | GSE238078 | GEO
Project description:To study alternatively spliced isoforms expressed differently in the testis of donors with Non-Obstructive Azoospermia (NOA), testicular biopsies were collected from donors with NOA condition (as identified by cytological examination) and Obstructive Azoospermia (OA), and Varicocele (VA) conditions. The biopsy samples were stored in RNA-later solution (Ambion, cat # AM7024), according to the manufacturer's guidelines. RNA was extracted using the RiboPure kit (Ambion cat # AM1924). Two normal commercial testicular RNA (Clontech cat. no.: 636533, Asian: lot no: 1105041; Caucasian: lot. no.: LOT1105214A) samples were also used. The RNA quality was checked with formaldehyde agarose gel electrophoresis as well as a micro-volume spectrophotometer. For NGS, testicular RNA from 8 NOA, 2 OA and 2 Varicocele donors were used. Paired-end library preparation was carried out using Illumina TruSeq RNA Library Prep Kit v2, and sequencing was done using the Illumina HiSeq 2000. After quality checks, seqtk (https://github.com/lh3/seqtk) was used for trimming low-quality reads. Alignments, identification of transcripts and the chimeric/transplice molecules, and their quantification were performed by Kallisto software. Sample segregation according to the corresponding donor condition was confirmed via clustering RNA-seq data from the samples.
2023-03-10 | GSE216907 | GEO
Project description:We collected blood samples of two non-obstructive azoospermia patients, and performed whole exome sequencing to explore the causal mutations for male infertility.
2021-06-22 | E-MTAB-9287 | biostudies-arrayexpress
Project description:In the present study we carried out testicular gene expression profiling of patients with AZFc microdeletion, idiopathic infertility and normal spermatogenesis, in order to identify up- and downregulated genes in the different conditions, and to verify the presence of specific molecular pathways leading to the spermatogenic damage in patients with AZFc deletions. All samples of patients with AZFc deletion clustered together, showing downregulation of several genes related to spermatogenesis. In this study, we analyzed testis expression profiles of 16 patients with different phenotypes, including men with AZFc deletions and men with idiopathic infertility. All pathological human testis RNAs were hybridized against normal testis reference RNA samples (obstructive azoospermia), while the three samples with normal spermatogenesis were hybridized against a control represented by an home-made RNA universal reference consisting of a commercial human purified tissue RNA pool (brain, liver, muscle and lung) (Clontech, Terra Bella, CA, USA) . These latter hybridizations were carried out in order to generate a profile of genes specifically expressed in normal testis.
2010-10-04 | E-GEOD-14310 | biostudies-arrayexpress
Project description:The role of paracrine/autocrine factors in inflammation, immune response and tumor development is well established. There is also an evidence that some of the cytokines there involved may participate in the regulation of the male gonads. However, their involvement in pathogenesis of male infertility has not been well defined yet. The aim of the present study was to examine the expression levels of IL-1 family members, IL-6, IL-10, TNF family, SCF and c-kit in infertile patients with idiopathic non-obstructive azoospermia (NOA) compared to men with normal spermatogenesis We analyzed testicular biopsy specimens obtained from 16 patients with non-obstructive azoospermia (NOA) and 4 with normal spermatogenesis using Affymetrix Human Gene 1.0 ST.
2013-08-02 | E-GEOD-45887 | biostudies-arrayexpress
Project description:Whole Exome Sequencing of two non-obstructive azoospermia patients
| PRJEB39182 | ENA
Project description:At present, the etiology of most non-obstructive azoospermia (NOA) remains unclear, and the patients are diagnosed as idiopathic infertility. In vitro generation of patient-specific induced pluripotent stem cells (iPSCs) is an effective approach for exploring the mechanisms of human disease. Here, we established iPSCs from patients with idiopathic NOA, and differentiated them into human germline cells both in vitro and in vivo. Compared with normal hiPSCs, the idiopathic NOA patient-specific iPSCs show less efficiency of primodial germ cell-like cells (PGCLCs) formation in vitro and poor proliferation potential in vivo. Although the transcriptomes of PGCLCs are different from that of embryonic gonadal PGCs, the expression patterns of key genes involved in human PGC specification are generally similar during PGCLC induction process from all iPSCs lines, including the activation of BLIMP1, TFAP2C, NANOS3, SOX17, and T, and the repression of PRDM14 and SOX2. Moreover, the PGCLCs derived from idiopathic NOA patient-specific iPSCs initiate epigenetic reprogramming with repression of 5mC and presence of 5hmC. These findings provide a unique foundation for future mechanism research of male infertility.
2019-02-28 | GSE126009 | GEO
Project description:We analyzed gene expression profiles of human testicular biopsies in men with idiopathic nonobstructive azoospermia. Using new generation oligonucleotide microarray platform GeneChipM-BM-. Human Gene 1.0 ST, we identified genes which could be potential biomarkers of azoospermia and molecular indicators that could determine a particular stage of impaired spermatogenesis. Thus, we shed light on genes which were had so far been weakly characterized and which were had never related to infertility before. These studies also included the comparative analysis of the hierarchical clustering of gene expression profile with histopathological data provided for azoospermic patients. We analyzed 31 testicular biopsy samples with Affymetrix Human Gene 1.0 ST microarrays. 27 of them were obtained from patients with various types of NOA and 4 with normal spermatogenesis.
2013-09-16 | E-GEOD-45885 | biostudies-arrayexpress