ABSTRACT
BACKGROUND: Non-obstructive azoospermia (NOA) occurs in approximately 10% of infertile men. Retrieval of the spermatozoa from the testicle of NOA patients is an invasive approach. Seminal plasma is an excellent source for exploring to find the biomarkers for presence of spermatozoa in testicular tissue. The present discovery phase study aimed to use metabolic fingerprinting to detect spermatogenesis from seminal plasma in NOA patients as a non-invasive method. METHODS: In this study, 20 men with NOA were identified based on histological analysis who had their first testicular biopsy in 2015 at Avicenna Fertility Center, Tehran, Iran. They were divided into two groups, a positive testicular sperm extraction (TESE(+)) and a negative testicular sperm extraction (TESE(-)). Seminal plasma of NOA patients was collected before they underwent testicular sperm extraction (TESE) operation. The metabolomic fingerprinting was evaluated by Raman spectrometer. Principal component analysis (PCA) and an unsupervised statistical method, was used to detect outliers and find the structure of the data. The PCA was analyzed by MATLAB software. RESULTS: Metabolic fingerprinting of seminal plasma from NOA showed that TESE (+) versus TESE(-) patients were classified by PCA. Furthermore, a possible subdivision of TESE(-) group was observed. Additionally, TESE(-) patients were in extreme oxidative imbalance compared to TESE(+) patients. CONCLUSION: Metabolic fingerprinting of seminal plasma can be considered as a breakthrough, an easy and cheap method for prediction presence of spermatogenesis in NOA.
ABSTRACT
BACKGROUND: Methylenetetrahydrofolate reductase (MTHFR) single-nucleotide polymorphisms (SNPs) C677T and A1298C have been described as strong risk factors for idiopathic recurrent miscarriage (RM). However, very few studies have investigated the association of paternal MTHFR SNPs with RM. The aim of the present study was to evaluate the prevalence of paternal C677T and A1298C SNPs among Iranian RM couples. METHODS: The study subjects comprised 225 couples with more than three consecutive pregnancy losses, and 100 control couples with no history of pregnancy complications. All females in the case group had MTHFR polymorphisms; and genotype SNPs were analyzed by PCR-RFLP. Groups were statistically compared using Mann Whitney U-test and Chi-square statistical tests. The p<0.05 were considered significant. RESULTS: Statistically significant difference was detected in the frequency of MTHFR SNPs in male partners of the two groups (p=0.019). Combined heterozygosity of MTHFR polymorphisms was a common phenomenon in the males; 52 (23.1%) and 14 (14%) of males in RM and control groups, respectively. Absence of combined homozygosity for both SNPs in all studied groups/genders was observed. CONCLUSION: The MTHFR gene composition of male partners of RM couples may contribute to increased risk of miscarriage.
ABSTRACT
BACKGROUND: Familial Idiopathic Basal Ganglia Calcification (IBGC) is a rare neurodegenerative disorder which is usually transmitted as an autosomal dominant trait. IBGC is genetically heterogeneous and SLC20A2, on chromosome 8p21.1-8q11.23, is the first gene found in IBGC-affected patients with varied ancestry. On the other hand, several candidate genes for IBGC on chromosome 2q37, including the SPP2 gene, may play a role in inhibiting calcification. METHODS: Totally, 22 members of a three generational Iranian family affected by IBGC, with an autosomal dominant pattern of inheritance were included in this study. DNA was extracted from the whole blood using standard salting out method. To find a mutation responsible for IBGC, we sequenced the coding region of SLC20A2 as well as promoter and coding region of SPP2 in the index subject of IBGC-affected family. RESULTS: Pathogenic mutation was found neither in SLC20A2 nor in SPP2. CONCLUSION: Our results strengthen genetic heterogeneity of this condition. Additional mutation studies are necessary to find a gene or genes responsible for IBGC in this affected family.
ABSTRACT
Tumor necrosis factor-α (TNF-α), a multifunctional proinflammatory cytokine, and vascular endothelial growth factor (VEGF), a major mediator of angiogenesis and vascular permeability, have been investigated in endometriosis patients of different populations. This study was carried out to investigate whether the two polymorphisms, TNF-α -1031T/C and VEGF +450G/C are associated with susceptibility to endometriosis in an Iranian population. Totally, 135 women with diagnosis of endometriosis and 173 women with no evidence of the disease were included in this study. The -1031T/C and +450G/C polymorphisms were assessed by PCR-RFLP analysis, using the two restriction enzymes BbsI and BsmFI, respectively. The frequencies of the TNF-α -1031TC genotype (p = 0.038) and the -1031 C allele (p = 0.048) were significantly lower in patients than control group. In contrast, no significant differences in the genotype and allele frequencies of the VEGF +450G/C polymorphism were found between the case and control groups. Our results suggest that the TNF-α -1031T/C polymorphism was associated with susceptibility to endometriosis in Iranian population, and the -1301C allele may have a protective role in development of endometriosis; On the contrary, we find no association between the VEGF +450G/C polymorphism and risk of endometriosis.
