The genetic architecture of morphological abnormalities of the sperm tail

AbstractSpermatozoa contain highly specialized structural features reflecting unique functions required for fertilization. Among them, the flagellum is a sperm-specific organelle required to generate the motility, which is essential to reach the egg. The flagellum integrity is, therefore, critical for normal sperm function and flagellum defects consistently lead to male infertility due to reduced or absent sperm motility defined as asthenozoospermia. Multiple morphological abnormalities of the flagella (MMAF), also called short tails, is among the most severe forms of sperm flagellum defects responsible for male infertility and is characterized by the presence in the ejaculate of spermatozoa being short, coiled, absent and of irregular caliber. Recent studies have demonstrated that MMAF is genetically heterogeneous which is consistent with the large number of proteins (over one thousand) localized in the human sperm flagella. In the past 5 years, genomic investigation of the MMAF phenotype allowed the identification of 18 genes whose mutations induce MMAF and infertility. Here we will review information about those genes including their expression pattern, the features of the encoded proteins together with their localization within the different flagellar protein complexes (axonemal or peri-axonemal) and their potential functions. We will categorize the identified MMAF genes following the protein complexes, functions or biological processes they may be associated with, based ...
Source: Human Genetics - Category: Genetics & Stem Cells Source Type: research

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In this study, dosimeters were used to measure the testicular dose with and without testicular shielding to verify the effect of shielding. Anthropomorphic phantoms representing a human were used to estimate the doses absorbed in testicular and whole-body studies. The anthropomorphic phantom was irradiated according to the treatment protocol for colorectal cancer. Measurements were made using optically-stimulated luminescent dosimeters (OSLDs), composed of carbon-doped aluminum oxide, with characteristics suitable for radiotherapy dosimetry studies. A set of OSLDs was placed on a testicular phantom, attached to the lower e...
Source: Radiation Physics and Chemistry - Category: Physics Source Type: research
Conclusions: This study provides the first evidence that a personality dimension with many prognostic implications may be altered in women with endometriosis. Our findings highlight the importance of a broader understanding of this condition, treating this disorder from a biopsychosocial perspective and suggests the need for non-medical attention within a multidisciplinary team. PMID: 32081052 [PubMed - as supplied by publisher]
Source: Journal of Psychosomatic Obstetrics and Gynaecology - Category: OBGYN Tags: J Psychosom Obstet Gynaecol Source Type: research
This study aimed to investigate the levels of nitric oxide (NO), 8-hydroxydesoxyguanosine (8-OHdG), and total antioxidant capacity (TAC) oxidative biomarkers in seminal plasma and their relationship with sperm parameters. Methods: A total of 77 volunteers participated in the study, including fertile (n=40) and infertile men (n=37). NO, 8-OHdG, and TAC levels were measured using the ferric reducing ability of plasma, Griess reagent method and an enzyme-linked immunosorbent assay kit, respectively. Results: The mean values of sperm parameters in the infertile group were significantly lower than those in the fertile group (p
Source: Clinical and Experimental Reproductive Medicine - Category: Reproduction Medicine Tags: Clin Exp Reprod Med Source Type: research
Abstract The mosaic 45,X/46,XY karyotype is a common sex chromosomal abnormality in infertile men. Males with this mosaic karyotype can benefit from assisted reproductive therapies, but the transmitted abnormalities contain 45,X aneuploidy as well as Y chromosome microdeletions. The aim of this study was to investigate the clinical and genetic characteristics of infertile men diagnosed with 45,X/46,XY mosaicism in China. Of the 734 infertile men found to carry chromosomal abnormalities, 14 patients were carriers of 45,X/46,XY mosaicism or its variants, giving a prevalence of 0.27% (14/5269) and accounting for 1.91...
Source: Braz J Med Biol Res - Category: Research Authors: Tags: Braz J Med Biol Res Source Type: research
We report our experience on nine cases that were completed prior to our French UTx robot-assisted trial.
Source: Journal of Robotic Surgery - Category: Surgery Source Type: research
We report the first two patients, who underwent in vitro maturation protocol in order to avoid the exacerbation risk due to controlled ovarian stimulation at a large tertiary university hospital. Both patients were referred to our infertility clinic with the concern of multiple sclerosis exacerbation after or during controlled ovarian stimulation treatment. The patients underwent in vitro maturation protocol in order to avoid ovarian stimulating agents. Both patients gave birth to healthy babies at term. They did not suffer any multiple sclerosis relapses during their treatment and during pregnancy. Controlled ovarian stim...
Source: Reproductive BioMedicine Online - Category: Reproduction Medicine Source Type: research
ConclusionThe results of the meta-analysis were found to be associated with PCOS condition. These genetic predisposition and pre prediction can interpret the chance of getting PCOS condition.
Source: Meta Gene - Category: Genetics & Stem Cells Source Type: research
In a first of its kind case, a baby was born to a mother left infertile from cancer through IVM and egg freezing.
Source: Health News: CBSNews.com - Category: Consumer Health News Source Type: news
Studies comparing the outcome of spontaneous versus assisted reproductive technologies (ART) pregnancies report heterogeneous results. Despite the success of ART to overcome infertility, concern is growing reg...
Source: BMC Pregnancy and Childbirth - Category: OBGYN Authors: Tags: Research article Source Type: research
The P2X7 receptor (P2X7R) is an ATP-gated ion channel known for its proinflammatory activity. Despite its participation in host defense against pathogens, the role played in viral infections, notably those caused by herpes viruses, has been seldom studied. Here we investigated the effect of P2X7R expression on human herpes virus 6 A (HHV-6A) infection of P2X7R-expressing HEK293 cells. We show that functional P2X7R increases while its blockade decreases viral load. Interestingly, HHV-6A infection was enhanced in HEK293 cells transfected with P2X7R cDNA bearing the gain of function 489C>T SNP (rs208294, replacing a histid...
Source: Frontiers in Pharmacology - Category: Drugs & Pharmacology Source Type: research
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