Novel bi-allelic variants in DNAH10 lead to multiple morphological abnormalities of sperm flagella and male infertility.

Multiple morphological abnormalities of sperm flagella (MMAF) is a severe form of asthenoteratozoospermia, characterized by morphological abnormalities and reduced motility of sperm, causing male infertility. Although approximately 60% of MMAF cases can be explained genetically, the etiology of the remaining cases is unclear. Here, we identified two novel compound heterozygous variants in the gene, dynein axonemal heavy chain 10 (DNAH10), in three patients from two unrelated Pakistani families using whole-exome sequencing (WES), including one compound heterozygous mutation (DNAH10: c.

Damage and repair in retinal degenerative diseases: molecular basis through clinical translation.

Retinal ganglion cells are the bridging neurons between the eye and the central nervous system, transmitting visual signals to the brain. The injury and loss of retinal ganglion cells are the primary pathological changes in several retinal degenerative diseases, including glaucoma, ischemic optic neuropathy, diabetic neuropathy, and optic neuritis. In mammals, injured retinal ganglion cells lack regenerative capacity and undergo apoptotic cell death within a few days of injury.

Flexible Intervention of Polyoxometalate Support on the Electronegativity of Single Atoms to Enhance Catalytic Activity.

The construction of single-atom catalysts (SACs) using polyoxometalates (POMs) as supports has attracted significant attention. Specifically, POMs possess the unique ability to reversibly accept and donate electrons; yet, the potential benefits of this distinctive characteristic on the activity of single atoms have remained unexplored. In this study, we employ density functional theory (DFT) calculations to investigate the synthesis of CHCOOH from CO, CH, and HO catalyzed by POM-supported SAC M1/POM (M = Pt, Rh, Ru, Pd, Co), aiming to gain a more comprehensive understanding of the role of POM support in SACs.

Exploring Endothelial Cell Dysfunction's Impact on the Brain-Retina Microenvironment Connection: Molecular Mechanisms and Implications.

The intricate linking between the health of blood vessels and the functioning of neurons has attracted growing attention in the context of disorders that affect the neurological environment. Endothelial cells, forming the blood-brain barrier and blood-retinal barrier, play a fundamental role in maintaining the integrity of the brain-retina microenvironment connection. This review explores the molecular foundations of endothelial cell dysfunction and its implications for the brain-retina interaction.

Novel biallelic ADCY10 variants cause asthenozoospermia with excessive residual cytoplasm and hydronephrosis in humans.

Research Question: Could the novel mutations in ADCY10 cause asthenozoospermia and absorptive hypercalciuria in humans, and the potential pathogenesis?

Design: Whole-exome sequencing and Sanger sequencing were conducted to identify potential pathogenic variants in two unrelated Pakistani families. Reverse transcription polymerase chain reaction was utilized to assess the mutation effect on mRNA levels in the patients. Transmission electron microscopy and scanning electron microscopy were performed to examine the sperm flagellar ultrastructure.