Novel variants in PADI6 genes cause female infertility due to early embryo arrest.

Purpose: Early embryo arrest is characterized by premature termination of development in preimplantation embryos. Human subcortical maternal complex (SCMC) is a protein complex that is specifically expressed in mammalian oocytes and early embryos and is essential for embryonic cell division. Peptidyl arginine deiminase 6 (PADI6) is proven to be a member of SCMC.

Causal relationships between gut microbiota and polycystic ovarian syndrome: A bidirectional Mendelian randomization study.

Introduction: Previous studies have established a link between gut microbiota and polycystic ovary syndrome (PCOS), but little is known about their precise causal relationship. Therefore, this study aims to explore whether there are precise causal relationships between gut microbiota and PCOS.

Material And Methods: We performed a bidirectional two-sample Mendelian randomization (MR) analysis.

A novel heterozygous missense variant of PANX1 causes human oocyte death and female infertility.

Pannexin1 (PANX1) is a highly glycosylated membrane channel-forming protein, which has been found to implicate in multiple physiological and pathophysiological functions. Variants in the PANX1 gene have been reported to be associated with oocyte death and recurrent in vitro fertilization failure. In this study, we identified a novel heterozygous PANX1 variant (NM_015368.

Recryopreservation impairs blastocyst implantation potential via activated endoplasmic reticulum stress pathway and induced apoptosis.

Recryopreservation (recryo) is occasionally applied in clinical, while the underlying mechanism of impaired clinical outcomes after recryo remains unclear. In this study, frozen embryo transfer (FET) cycles of single blastocyst transfer in an academic reproductive medicine center were enrolled. According to the number of times blastocysts experienced cryopreservation, they were divided into the cryopreservation (Cryo) group and the Recryo group.

A new insight on evaluation of the fertility and pregnancy outcome in patients with primary Sjögren syndrome: a propensity score matched study in multi-IVF centers.

Background: Primary Sjögren syndrome (pSS) is often related to adverse neonatal outcomes. But it's currently controversial whether pSS has an adverse effect on female fertility and clinical pregnancy condition. More importantly, it's unclear regarding the role of pSS in oocyte and embryonic development.

Decreased embryo developmental potential and lower cumulative pregnancy rate in men with multiple morphological abnormalities of the sperm flagella.

Objective: Multiple morphological abnormalities of the sperm flagella (MMAF) is characterized by abnormal flagellar phenotypes, which is a particular kind of asthenoteratozoospermia. Previous studies have reported a comparable intracytoplasmic sperm injection (ICSI) outcome in terms of fertilization rate and clinical pregnancy rate in patients with MMAF compared with those with no MMAF; however, others have conflicting opinions. Assisted reproductive technology (ART) outcomes in individuals with MMAF are still controversial and open to debate.

An overview of CFTR mutation profiles and assisted reproductive technology outcomes in Chinese patients with congenital obstructive azoospermia.

Purpose: The cystic fibrosis transmembrane conductance regulator (CFTR) is the most common causative gene attributed to congenital obstructive azoospermia (OA). The aim of this study was to conduct an epidemiological survey of congenital OA patients, to screen for CFTR mutations, and to follow their pregnancy outcomes in assisted reproductive technology (ART).

Methods: This cohort study enrolled congenital OA patients undergoing ART and whole-exome sequencing from January 2018 to September 2023.

Novel ACTL7A variants in males lead to fertilization failure and male infertility.

Background: Total fertilization failure occurs in 1%-3% of all intracytoplasmic sperm injection cycles. Genetic defects are found to be crucial causes responsible for total fertilization failure after intracytoplasmic sperm injection. However, the reported genes only elucidate a small proportion of total fertilization failure cases, and more genetic defects are required to be explored.

Novel compound heterozygous mutations in cause primary infertility in Han Chinese males with multiple morphological abnormalities of the sperm flagella.

This study aimed to identify genetic causes responsible for multiple morphological abnormalities of the sperm flagella (MMAF) in the Han Chinese population. Three primary infertile males with completely immobile sperm and MMAF were enrolled. Whole-exome sequencing and Sanger sequencing were performed to identify disease-causing genes.

Can successful pregnancy be achieved and predicted from patients with identified ZP mutations? A literature review.

Background: In mammals, normal fertilization depends on the structural and functional integrity of the zona pellucida (ZP), which is an extracellular matrix surrounding oocytes. Mutations in ZP may affect oogenesis, fertilization and early embryonic development, which may cause female infertility.

Methods: A PubMed literature search using the keywords 'zona pellucida', 'mutation' and 'variant' limited to humans was performed, with the last research on June 30, 2022.

A novel heterozygous variant in PANX1 causes primary infertility due to oocyte death.

Purpose: Variants in the pannexin1 (PANX1) gene have been reported to be associated with oocyte death and recurrent in vitro fertilization failure. In this study, we performed genetic analysis in the patient with female infertility due to oocyte death to identify the disease-causing gene variant in the patient.

Methods: We characterized one patient from a non-consanguineous family who had suffered from oocyte death and female infertility.

Oocyte phenotype, genetic diagnosis, and clinical outcome in case of patients with oocyte maturation arrest.

Background: oocyte maturation arrest (OMA) is currently one of the major causes of fertilization (IVF) failure, and several gene mutations were found to be associated with OMA. The purpose of this study was to identify the oocyte phenotype, genetic diagnosis, and clinical outcomes of patients with OMA and explore their possible interrelationships, thus providing a more individualized and efficient treatment strategy guidance accordingly.

Methods: A retrospective study was conducted, involving 28 infertile women with OMA in the Reproductive Medicine Center of Tongji Hospital from 2018 to 2021.

Ferroptosis Is Regulated by Mitochondria in Neurodegenerative Diseases.

Background: Neurodegenerative diseases are characterized by a gradual decline in motor and/or cognitive function caused by the selective degeneration and loss of neurons in the central nervous system, but their pathological mechanism is still unclear. Previous research has revealed that many forms of cell death, such as apoptosis and necrosis, occur in neurodegenerative diseases. Research in recent years has noticed that there is a new type of cell death in neurodegenerative diseases: ferroptosis.

SIRT3 Regulation of Mitochondrial Quality Control in Neurodegenerative Diseases.

Neurodegenerative diseases are disorders that are characterized by a progressive decline of motor and/or cognitive functions caused by the selective degeneration and loss of neurons within the central nervous system. The most common neurodegenerative diseases are Alzheimer's disease (AD), Parkinson's disease (PD), and Huntington's disease (HD). Neurons have high energy demands, and dysregulation of mitochondrial quality and function is an important cause of neuronal degeneration.

Role of PGC-1α in Mitochondrial Quality Control in Neurodegenerative Diseases.

As one of the major cell organelles responsible for ATP production, it is important that neurons maintain mitochondria with structural and functional integrity; this is especially true for neurons with high metabolic requirements. When mitochondrial damage occurs, mitochondria are able to maintain a steady state of functioning through molecular and organellar quality control, thus ensuring neuronal function. And when mitochondrial quality control (MQC) fails, mitochondria mediate apoptosis.