Objective: To study the correlation of nucleotide polymorphism in the ubiquitin-specific protease 26 (Usp26) gene with idiopathic male infertility and its action mechanism in spermatogenesis.
Methods: Based on the WHO criteria (4th ed.), we selected 41 patients with idiopathic infertility from 150 infertile males, and enlisted 50 normal fertile men as controls. We examined the selected patients for mutations using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis, and determined how and where the mutations occurred by gene sequencing.
Results: Low sperm concentration and poor sperm motility were found in the 41 men with idiopathic infertility. Nine (22.0%) of them exhibited changes in the Usp26 gene (P = 0.01), including compound mutations of 364insACA and 460G > A in 8 (19.5%, P = 0.01) and 1 044T > A substitution in 1 (2.4%, P > 0.05). The above three variations led to changes in the coding amino acids. No other changes were found in the remaining patients and normal fertile controls.
Conclusion: The nucleotide polymorphisms of the Usp26 gene might be closely related with idiopathic male infertility, and exert negative effect on the testis function.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Real-Time 2D Phase-Contrast MRI to Assess Cardiac- and Respiratory-Driven CSF Movement in Normal Pressure Hydrocephalus.
J Neuroimaging
December 2024
Department of Radiology, Mayo Clinic, Rochester, Minnesota, USA.
Background And Purpose: In idiopathic normal pressure hydrocephalus (iNPH) patients, cerebrospinal fluid (CSF) flow is typically evaluated with a cardiac-gated two-dimensional (2D) phase-contrast (PC) MRI through the cerebral aqueduct. This approach is limited by the evaluation of a single location and does not account for respiration effects on flow. In this study, we quantified the cardiac and respiratory contributions to CSF movement at multiple intracranial locations using a real-time 2D PC-MRI and evaluated the diagnostic value of CSF dynamics biomarkers in classifying iNPH patients.
View Article and Find Full Text PDFThe plasma metabolome of juvenile idiopathic arthritis varies according to subtype and underlying inflammatory status.
Pediatr Rheumatol Online J
December 2024
Infection, Immunity and Global Health Theme, Murdoch Children's Research Institute, Parkville, VIC, 3052, Australia.
Background: Juvenile idiopathic arthritis (JIA) is challenging to classify and effectively monitor due to the lack of disease- and subtype-specific biomarkers. A robust molecular signature that tracks with specific JIA features over time is urgently required, and targeted plasma metabolomics may reveal such a signature. The primary aim of this study was to characterise the differences in the plasma metabolome between JIA patients and non-JIA controls and identify specific markers of JIA subtype.
View Article and Find Full Text PDFThe utility of customised tissue probability maps and templates for patients with idiopathic normal pressure hydrocephalus: a computational anatomy toolbox (CAT12) study.
Fluids Barriers CNS
December 2024
Department of Behavioural Neurology and Cognitive Neuroscience, Tohoku University Graduate School of Medicine, 2-1, Seiryo-machi, Aoba-ku, Sendai, 980-8575, Miyagi, Japan.
Background: Disproportionately enlarged subarachnoid space hydrocephalus (DESH) is one of the neuroradiological characteristics of idiopathic normal pressure hydrocephalus (iNPH), which makes statistical analyses of brain images difficult. This study aimed to develop and validate methods of accurate brain segmentation and spatial normalisation in patients with DESH by using the Computational Anatomy Toolbox (CAT12).
Methods: Two hundred ninety-eight iNPH patients with DESH and 25 healthy controls (HCs) who underwent cranial MRI were enrolled in this study.
B-Acute Lymphoblastic Leukemia/Lymphoblastic Lymphoma Mimicking Fibrosing Mediastinitis: A Case Report and Diagnostic Insight.
Am J Case Rep
December 2024
Division of Respirology, Rheumatology, Infectious Diseases, and Neurology, Department of Internal Medicine, Faculty of Medicine, University of Miyazaki, Kiyotake, Miyazaki, Japan.
BACKGROUND Fibrosing mediastinitis (FM) is a rare, fibroproliferative disorder within the mediastinum. It is extremely rare for hematologic malignancies to develop as FM. CASE REPORT A 32-year-old Japanese man with a 1-month history of headache and 2-week history of facial swelling underwent chest computed tomography (CT); a diffuse mass-like lesion was revealed in the anterior mediastinum with severe stenosis of vital mediastinal organs.
View Article and Find Full Text PDFIntroduction: Lichen planus pigmentosus (LPP) is an uncommon variant of lichen planus, characterized by the insidious onset of dark brown to gray pigmented macules, mainly in sun-exposed areas and flexural folds. It is mainly reported in Indian, Latino, American, and Middle Eastern patients. This paper aims to document the clinicopathological characteristics of LPP.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!