A homozygous loss-of-function mutation in CEP250 is associated with acephalic spermatozoa syndrome in humans.

Background: The presence of predominantly headless sperm in semen is a hallmark of acephalic spermatozoa syndrome, which is primarily caused by gene mutations in humans.

Purpose: To identify genetic causes for acephalic spermatozoa syndrome.

Methods: Polymerase chain reaction and Sanger sequencing were performed to define mutations in SUN5 and PMFBP1.

Novel and recurrent hemizygous variants in BCORL1 cause oligoasthenoteratozoospermia by interfering transcription.

Background: Oligoasthenoteratozoospermia (OAT) is a common cause of male infertility, of which the causes remain largely unknown. Recently, BCORL1 was identified as a contributor to male infertility from non-obstructive azoospermia (NOA) to OAT.

Objectives: To identify novel and hotspot variants in BCORL1 from infertile men with OAT and reveal their outcomes of assisted reproductive treatments (ARTs).

Association of lifestyle and occupational exposure factors with human semen quality: a cross-sectional study of 1060 participants.

The incidence of male infertility (MI) is rising annually. However, the lifestyle and occupational exposure factors contributing to MI remain incompletely understood. This study explored the effects of self-reported lifestyle and occupational exposure factors on semen quality.

Unraveling the Impact of the PROCA1 Mutation in Male Infertility: Incorporating Whole Exome Sequencing in Teratozoospermia Patients and Analyzing Proca1 Knockout Mice.

In the world, about 15% of couples are infertile, and nearly half of all infertility was caused by men. A large number of genetic mutations are thought to affect spermatogenesis by regulating acrosome formation. Here, we identified three patients harbouring the protein interacting with cyclin A1 (PROCA1) mutation by whole exome sequencing (WES) and Sanger sequencing among patients with predominantly acrosome-deficient teratozoospermia.

Adenylate kinase phosphate energy shuttle underlies energetic communication in flagellar axonemes.

The complexities of energy transfer mechanisms in the flagella of mammalian sperm flagella have been intensively investigated and demonstrate significant diversity across species. Enzymatic shuttles, particularly adenylate kinase (AK) and creatine kinase (CK), are pivotal in the efficient transfer of intracellular ATP, showing distinct tissue- and species-specificity. Here, the expression profiles of AK and CK were investigated in mice and found to fall into four subgroups, of which Subgroup III AKs were observed to be unique to the male reproductive system and conserved across chordates.

Biallelic loss-of-function mutations in SEPTIN4 (C17ORF47), encoding a conserved annulus protein, cause thin midpiece spermatozoa and male infertility in humans.

Asthenoteratozoospermia is the primary cause of infertility in humans. However, the genetic etiology remains largely unknown for those suffering from severe asthenoteratozoospermia caused by thin midpiece defects. In this study, we identified two biallelic loss-of-function variants of SEPTIN4 (previously SEPT4) (Patient 1: c.

A novel homozygous missense mutation in AK7 causes multiple morphological anomalies of the flagella and oligoasthenoteratozoospermia.

Purpose: To identify the genetic causes of multiple morphological anomalies of the flagella (MMAF) and oligoasthenoteratozoospermia (OAT).

Methods: Whole-exome sequencing (WES) was performed on the proband to identify pathogenic mutation for infertility. Western blotting and immunofluorescence analysis detected the expression level and localization of adenylate kinase 7 (AK7).

Pathogenesis of acephalic spermatozoa syndrome caused by splicing mutation and de novo deletion in TSGA10.

Purpose: To identify the genetic causes for acephalic spermatozoa syndrome.

Methods: Whole-exome sequencing was performed on the proband from a non-consanguineous to identify pathogenic mutations for acephalic spermatozoa syndrome. Quantitative real-time polymerase chain reaction and whole genome sequencing were subjected to detect deletion.

Novel Mutation and Deletion in SUN5 Cause Male Infertility with Acephalic Spermatozoa Syndrome.

Acephalic spermatozoa syndrome (ASS) is a severe form of teratozoospermia, previous studies have shown that SUN5 mutations are the major cause of acephalic spermatozoa syndrome. This study is to identify the pathogenic mutations in SUN5 leading to ASS. PCR and Sanger sequence were performed to define the breakpoints and mutations in SUN5.

Novel bi-allelic variants in DNAH2 cause severe asthenoteratozoospermia with multiple morphological abnormalities of the flagella.

Research Question: Multiple morphological abnormalities of the flagella (MMAF) is characterized by excessive immotile spermatozoa with severe flagellar abnormalities in the ejaculate. Previous studies have reported a heterogeneous genetic profile associated with MMAF. What other genetic variants might explain the cause of MMAF?

Design: Whole-exome sequencing was conducted in a cohort of 90 Chinese patients with MMAF.

A novel homozygous missense mutation of PMFBP1 causes acephalic spermatozoa syndrome.

Purpose: To identify the pathogenic mutation in PMFBP1 leading to acephalic spermatozoa syndrome.

Methods: Sanger sequencing was used to screen for mutations in the known pathogenic genes SUN5 and PMFBP1 in a patient with acephalic spermatozoa syndrome. Western blotting and immunofluorescence were used to detect the expression and localization of PMFBP1 in sperm.

[Outcomes of assisted reproductive technology for patients with different types of teratozoospermia].

Objective: To discuss the outcomes of ICSI in infertile patients with globozoospermia (GS), acephalic spermatozoa syndrome (ASS) or teratozoospermia with miniacrosome and irregular-headed sperm defect (TMRHS).

Methods: This retrospective study included 3 cases of GS, 3 cases of ASS and 2 cases of TMRHS undergoing ICSI. We analyzed the rates of fertilization, cleavage, blastocyst formation, implantation, clinical pregnancy and live birth in the three groups of patients.

A homozygous nonsense mutation of PLCZ1 cause male infertility with oocyte activation deficiency.

Purpose: To identify the pathogenic PLCZ1 mutation involved in male infertility and fertilization failure.

Methods: All coding regions of PLCZ1 were sequenced by Sanger sequencing. The expression and localization of PLCZ1 in sperm was determined by Western blotting and immunofluorescence.

Novel homozygous mutations in humans and mice cause severe asthenoteratospermia with multiple morphological abnormalities of the sperm flagella.

Background: Male infertility is a major issue of human reproduction health. Asthenoteratospermia can impair sperm motility and cause male infertility. Asthenoteratospermia with multiple morphological abnormalities of the flagella (MMAF) presents abnormal spermatozoa with absent, bent, coiled, short and/or irregular-calibre flagella.

SOD mimetic improves the function, growth, and survival of small-size liver grafts after transplantation in rats.

Background: Small-for-size syndrome (SFSS) may occur when graft volume is less than 45% of the standard liver volume, and it manifests as retarded growth and failure of the grafts and more mortality. However, its pathogenesis is poorly understood, and few effective interventions have been attempted.

Aims: The present study aimed to delineate the critical role of oxidant stress in SFSS and protective effects of a superoxide dismutase mimetic, Mn(III)tetrakis(4-benzoic acid)porphyrin chloride (MnTBAP), on graft function, growth, and survival in the recipient rats.