Novel biallelic MCMDC2 variants were associated with meiotic arrest and nonobstructive azoospermia.

Nonobstructive azoospermia (NOA), one of the most severe types of male infertility, etiology often remains unclear in most cases. Therefore, this study aimed to detect four biallelic detrimental variants (0.5%) in the minichromosome maintenance domain containing 2 (MCMDC2) genes in 768 NOA patients by whole-exome sequencing (WES).

Dietary therapies interlinking with gut microbes toward human health: Past, present, and future.

Overview of personalized dietary therapies. This flow chart exhibits the future prospect for integrating human microbiome and bio-medical research to revolutionize the precise personalized dietary therapies. With the development of artificial intelligence (AI), incorporating database may achieve personalized dietary therapies with high precision.

Primate-Specific DAZ Regulates Translation of Cell Proliferation-Related mRNAs and is Essential for Maintenance of Spermatogonia.

Primate-specific DAZ (deleted in azoospermia) has evolved in the azoospermia factor c (AZFc) locus on the Y chromosome. Loss of DAZ is associated with azoospermia in patients with deletion of the AZFc region (AZFc_del). However, the molecular mechanisms of DAZ in spermatogenesis remain uncertain.

Creating alternative seafood flavour from non-animal ingredients: A review of key flavour molecules relevant to seafood.

This review summarises current knowledge of the molecular basis for flavour profiles of popular seafood types (crustacean (crab, lobster, prawn, etc.), mollusc (oyster, squid, etc.), oily fish (salmon, sardine, etc.

Exome-informed formulations of food proteins enhance body growth and feed conversion efficiency in ad libitum-fed mice.

Meeting requirements for dietary proteins, especially of essential amino acids (EAAs), is critical for the life-long health of living organisms. However, defining EAA targets for preparing biologically-matched nutrition that satisfies metabolic requirements for protein remains challenging. Previous research has shown the advantages of 'exome matching' in representing the specific requirement of dietary AAs, where the target dietary AA profile was derived from in silico translation of the genome of an organism, specifically responsible for protein expression (the 'exome').

A bi-allelic REC114 loss-of-function variant causes meiotic arrest and nonobstructive azoospermia.

Nonobstructive azoospermia (NOA), the most severe manifestation of male infertility, lacks a comprehensive understanding of its genetic etiology. Here, a bi-allelic loss-of-function variant in REC114 (c.568C > T: p.

scRNA-seq reveals that origin recognition complex subunit 6 regulates mouse spermatogonial cell proliferation and apoptosis via activation of Wnt/β-catenin signaling.

The regulation of spermatogonial proliferation and apoptosis is of great significance for maintaining spermatogenesis. The single-cell RNA sequencing (scRNA-seq) analysis of the testis was performed to identify genes upregulated in spermatogonia. Using scRNA-seq analysis, we identified the spermatogonia upregulated gene origin recognition complex subunit 6 ( Orc6 ), which is involved in DNA replication and cell cycle regulation; its protein expression in the human and mouse testis was detected by western blot and immunofluorescence.

Variation of wine preference amongst consumers is influenced by the composition of salivary proteins.

The preferences of consumers for different flavours and aromas in wine are varied and may be explained by inherent factors such as cultural background, wine education and personal taste of the wine consumer. Wine flavour, as perceived in the mouth, includes aroma compounds released through the retronasal pathway, which are shaped by interactions with saliva. Saliva and wine interactions could provide an explanation as to why wine tasters express different preferences for wine.

Identification of a missense variant of MND1 in meiotic arrest and non-obstructive azoospermia.

Meiotic arrest is a common pathologic phenotype of non-obstructive azoospermia (NOA), yet its genetic causes require further investigation. Meiotic nuclear divisions 1 (MND1) has been proved to be indispensable for meiotic recombination in many species. To date, only one variant of MND1 has been reported associated with primary ovarian insufficiency (POI), yet there has been no report of variants in MND1 associated with NOA.

A homozygous frameshift variant in SYCP2 caused meiotic arrest and non-obstructive azoospermia.

Genetic causation for the majority of non-obstructive azoospermia (NOA) remains unclear. Mutations in synaptonemal complex (SC)-associated genes could cause meiotic arrest and NOA. Previous studies showed that heterozygous truncating variants in SYCP2 encoding a protein essential for SC formation, are associated with non-obstructive azoospermia and severe oligozoospermia.

Low-Intensity Pulsed Ultrasound Alleviates Human Testicular Leydig Cell Senescence In Vitro.

Aging has a significant negative impact on human testicular function; steroidogenesis is gradually impaired, and testosterone replacement therapy still has many risks. Low-intensity pulsed ultrasound (LIPUS) has been used as a novel non-invasive treatment for male erectile dysfunction and other fields, and has been shown to increase testosterone levels in animal models. Testosterone is synthesized and secreted by Leydig cells (LCs), and the serum testosterone level decreases after aging due to the LCs senescence.

The salivary microbiome shows a high prevalence of core bacterial members yet variability across human populations.

Human saliva contains diverse bacterial communities, reflecting health status, dietary patterns and contributing to variability in the sensory perception of food. Many descriptions of the diversity of the salivary microbiome have focused on the changes induced by certain diseased states, but the commonalities and differences within healthy saliva have not been fully described. Here, we define and explore the core membership of the human salivary microbial community by collecting and re-analysing raw 16S rRNA amplicon sequencing data from 47 studies with 2206 saliva samples.

Single-cell transcriptome atlas of the human corpus cavernosum.

The corpus cavernosum is the most important structure for penile erection, and its dysfunction causes many physiological and psychological problems. However, its cellular heterogeneity and signalling networks at the molecular level are poorly understood because of limited access to samples. Here, we profile 64,993 human cavernosal single-cell transcriptomes from three males with normal erection and five organic erectile dysfunction patients.

Novel copy number variations within SYCE1 caused meiotic arrest and non-obstructive azoospermia.

Background: Non-obstructive azoospermia (NOA) is the most severe disease in male infertility, but the genetic causes for majority of NOA remain unknown.

Methods: Two Chinese NOA-affected patients were recruited to identify the genetic causal factor of infertility. Whole-exome sequencing (WES) was conducted in the two patients with NOA.

Novel bi-allelic variants in KASH5 are associated with meiotic arrest and non-obstructive azoospermia.

KASH5 is an essential component of the LINC (linker of the nucleoskeleton and cytoskeleton) complex that regulates chromosome movements and nuclear envelope (NE) remodeling in mouse spermatocytes during meiosis prophase I, but its expression and function in human cells, as well as its association with male infertility are largely unknown. In this study, a novel heterozygous copy number variation (CNV) (seq [GRCh37] del(19) (19q13.33) chr19: g.

Vitrification with microinjection of single seminiferous tubules: an efficient cryopreservation approach for limited testicular tissue.

Research Question: Is vitrification with microinjection of single seminiferous tubules an efficient cryopreservation approach for limited testicular tissue?

Design: Testicular tissue from 10 patients with normal spermatogenesis were assigned to a fresh control group or one of the following cryopreservation procedures: uncontrolled slow freezing (USF) using either 1.5 or 2.1 M DMSO combined with sucrose and vitrification with or without single seminiferous tubules microinjection.

Optimizing extraction method of aroma compounds from grape pomace.

Grape pomace is a major wine industry byproduct. Extraction of volatile compounds from grape pomace is rarely explored. A cost-effective method was developed in this study for aroma compounds extraction from grape pomace with the potential for industrial application.

Single-cell analysis of developing and azoospermia human testicles reveals central role of Sertoli cells.

Clinical efficacy of treatments against non-obstructive azoospermia (NOA), which affects 1% of men, are currently limited by the incomplete understanding of NOA pathogenesis and normal spermatogenic microenvironment. Here, we profile >80,000 human testicular single-cell transcriptomes from 10 healthy donors spanning the range from infant to adult and 7 NOA patients. We show that Sertoli cells, which form the scaffold in the testicular microenvironment, are severely damaged in NOA patients and identify the roadmap of Sertoli cell maturation.

Glycosidically bound aroma precursors in fruits: A comprehensive review.

Fruit aroma is mainly contributed by free and glycosidically bound aroma compounds, in which glycosidically bound form can be converted into free form during storage and processing, thereby enhancing the overall aroma property. In recent years, the bound aroma precursors have been widely used as flavor additives in the food industry to enhance, balance and recover the flavor of products. This review summarizes the fruit-derived aroma glycosides in different aspects including chemical structures, enzymatic hydrolysis, biosynthesis and occurrence.

Dataset of concentrations of free terpenes at different phenological stages in L. Shiraz, Cabernet Sauvignon, Riesling, Chardonnay and Pinot Gris.

Five L. cultivars Shiraz, Cabernet Sauvignon, Riesling, Chardonnay and Pinot Gris at different E-L development stages were harvested in two experimental vintages. Temperature and rainfall data of the growing period were obtained from the Australian Government Bureau of Meteorology.

Comparison of the phenolic contents, antioxidant activity and volatile compounds of different sorghum varieties during tea processing.

Background: Sorghum grain is rich in phenolic compounds and has the potential to be developed into functional beverages such as sorghum grain tea, in which the health benefits and flavour are the important quality attributes to be considered in tea product development. Therefore, this study investigated the effect of grain tea processing steps on the phenolic contents, antioxidant activity and aroma profile (volatile compounds) of MR-Buster (red-coloured) and Shawaya Short Black 1 (black-coloured) sorghum and the results compared with those for our previously reported Liberty (white-coloured) sorghum.

Results: Tea processing had significant impacts on sorghum polyphenols and volatile compounds, but the effect and level varied among sorghum varieties.

Free terpene evolution during the berry maturation of five Vitis vinifera L. cultivars.

Terpenes and their derivatives, terpenoids, are important biomarkers of grape quality as they contribute to flavor and aroma of grape and wine. The evolution of terpene and terpenoids throughout grapevine phenological development cycles is not well understood. The current study investigated the volatile profiles of free terpene and terpenoid of five widely grown Vitis vinifera L.

Effects of macro-nutrient, micro-nutrient composition and cooking conditions on in vitro digestibility of meat and aquatic dietary proteins.

Animal and aquatic meats represent important sources of dietary protein and micro-nutrients. Although red and processed meats carry some risks for human health, sensory and nutritional advantages drive meat consumption. Therefore, it is important to understand how meat processing and cooking influence healthiness.