1.Progress in Biological Functions of NBAS Gene and Related Diseases
Chenzi ZHAO ; Qing ZHANG ; Zhigang LI
JOURNAL OF RARE DISEASES 2022;1(3):359-364
Neuroblastoma-amplified sequence (NBAS) is a highly conserved gene firstly found in neuroblastoma, targeting on the human chromosome 2 p24.3 and encodes a protein that is a subunit of the Syntaxin 18 complex. The functions of NBAS include the involvement in transport of Golgi-to-Endoplasmic Reticulum retrograde and degradation of nonsense-mediated mRNA. NBAS gene is widely expressed in more than 30 tissues, suggesting that it may play an important role in human body. In 2010 and 2015, NBAS was identified successively as the pathogenic gene of SOPH syndrome and fever-related liver failure respectively. Recent studies shows that NBAS gene mutations can involve immune system and cause immune deficiency. In this paper, we review the biological function of NBAS, NBAS gene mutation-related diseases and their pathogenesis in recent years.
2.Effects and mechanism of Setaria italica extract on improving sleep in insomnia mice
Juan WANG ; Chenzi LYU ; Cairong ZHAO ; Hongyu ZHAO ; Zi’ang LI ; Xiang HAN ; Xianglong MENG ; Shuosheng ZHANG
China Pharmacy 2024;35(3):322-326
OBJECTIVE To investigate the effects of Setaria italica extract on improving insomnia model mice and to explore its potential mechanisms. METHODS The mice were randomly assigned into blank group, model group, positive control group (diazepam, 2.6 mg/kg), and S. italica extract low-dose, medium-dose and high-dose groups (1.2, 2.4, 4.8 g/kg), with 10 mice in each group. Except for the blank group, all other groups received intraperitoneal injection of para-chlorophenylalanine (PCPA) to establish the insomnia model. After modeling, the blank group and model group were given a constant volume of normal saline intragastrically, and administration groups were given relevant medicine intragastrically, with a volume of 0.01 mL/g, once a day, for 7 consecutive days. After the administration, the open-field test was conducted to observe the praxiological changes of mice, and to determine the levels of 5-hydroxytryptamine (5-HT) and 5-hydroxyindoleacetic acid (5-HTAA) in the hippocampal tissue, as well as the contents of 5-HT, brain-derived neurotrophic factor (BDNF), interleukin-2 (IL-2), IL-6, B-cell lymphoma-2 (Bcl- 2), and Bcl-2-associated X protein (Bax) in the serum. The expression of phosphoinositide 3-kinase/protein kinase B/nuclear factor- κB (PI3K/Akt/NF-κB) signaling pathway related protein was determined in the hippocampus of mice. RESULTS Compared with the model group, the total exercise time of mice in S. italica extract high-dose group was significantly prolonged, but the total rest time was significantly shortened (P<0.01); the number of standing times and modification times were significantly reduced (P< 0.01). The contents of 5-HT, BDNF, and Bcl-2 in serum, and Bcl-2/Bax were significantly increased, while the contents of IL-2, IL-6, and Bax were significantly reduced (P<0.05 or P< 0.01). The content of 5-HTAA in the hippocampal tissue and 202104010910029);the phosphorylation levels of PI3K and Akt proteins were increased significantly, while the phosphorylation level of NF-κB p65 protein was decreased significantly (P<0.05).CONCLUSIONS High-dose of S. italica extract demonstrates significant therapeutic effects on insomnia in mice, and the mechanism of which may be associated with the regulation of PI3K/Akt/NF-κB signaling pathway.