Yinfeng Gene Technology Co Ltd.

Oocyte maturation arrest (OMA) may occur at different stages, including the germinal vesicle (GV), metaphase I (MI), and metaphase II (MII). A total maturation arrest of human oocytes is rarely observed during in vitro fertilization (IVF). We have identified a case of infertile female for whom all oocytes fail to mature and are arrested at MI. Whole-exome sequencing revealed a compound heterozygous mutant (c.533C > A: p.Val458Ala; c.1373T > C: p.Ala178Glu) in cell division cycle 20 (CDC20). Through rigorous validation using Sanger sequencing technology, both of her parents have been confirmed as genetic carriers of these specific mutations. Based on the three-dimensional (3D) structures of the CDC20 protein used to assess the effect of the mutant, the mutant causes a change in hydrogen bond in the protein structure, which may affect the stability of the mutant protein. Previous studies have firmly established CDC20 as a pivotal member of the cell cycle regulation family, playing an indispensable role in the transition from metaphase to anaphase during cell division. Our findings not only broaden the current understanding of CDC20 gene mutations but also profoundly illuminate how these mutations serve as potential genetic mechanisms underlying the arrest of oocyte maturation.

Galectin-9 plays multiple roles in various tumors and exerts immune regulation within the tumor microenvironment. It is closely associated with tumor prognosis. This study aimed to analyze the expression of galectin-9 in the colon tumor microenvironment. The results indicated that galectin-9 expression is higher in the colon tumor microenvironment compared to adjacent normal tissues. Furthermore, high expression of galectin-9 was related to M2-type macrophages, which promote tumor development by increasing tumor cell viability, migration, and invasion. Notably, high expression of galectin-9 in colon tumor microenvironment contributed to the polarization of M2 cells, marked by high expression of arginase-1, CD163, and IL-10 and low expression of iNOS. When M0 macrophages were treated with galectin-9 and co-cultured with colon cancer cell lines, it resulted in increased cancer cell growth, migration, and invasion by promoting the differentiation of THP-1 monocytes into the M2 macrophages. The specific mechanism by which galectin-9 promotes M2 polarization involves its binding to Tim-3, recruiting PI3K-p85 to the cytoplasmic domain of Tim-3. This interaction further affects the PI3K/Akt signal pathway, leading to M2 polarization.

Pituitary stalk interruption syndrome is a disease with multiple hormone deficiencies caused by pituitary stalk interruption. Identification of the pathogenic gene variant is helpful for early diagnosis. Early hormone replacement therapy is helpful to improve the prognosis and quality of life of patients. LHX4 (NM_033343.4):c.612G>C (p.Trp204Cys) variant may lead to PSIS.