Abstract Objectives: To screen the COL1A1 and COL1A2 gene mutation sites in a family with type I osteogenesis imperfecta (OI)/hearing loss and analyze the characteristics and recovery of hearing loss in patients with osteogenesis imperfecta. Methods: The basic clinical data of Ol proband and her parents were collected, and the COL1A1 and COL1A2 genes were detected in peripheral blood by PCR amplification and generation Sanger sequencing. Literature of stapedial surgery in patients with osteogenesis imperfecta was collected. Results: The heterozygous mutation of the 26 exon c.1922_1923 ins C in the Ol progenitor COL1A1 gene led to the amino acid frameshift mutation of p.Pro 601FS, which was not detected in the phenotypic parents. The homozygous of exon 28 c.1782>G in COL1A2 was detected in the proband and her parents, resulting in changes in the protein p.Pro 549Ala. Conclusion: The clinical symptoms of the Ol proband is caused by heterozygous mutation of the 26 exon c.1922_1923 ins C in COL1A1 gene. Stapedial surgery can provide short-term and long-term hearing benefits for Ol patients with hearing loss. Level of evidence: Level 4.

A new spectrophotometric method was developed for the determination of taurine using 7,7,8,8-tetracyanoquinodimethane (TCNQ). The method was based on the formation of charge transfer (CT) complex of this drug as n-electron donor with the π-acceptor TCNQ. TCNQ was found to react with taurine to produce a kind of yellow complex. The spectrum obtained for taurine/TCNQ system showed the maximum absorption band at a wavelength of 420 nm. The formation of such complex was also confirmed by both infrared and 1H NMR measurements. Different variables affecting the reaction were studies and optimized. Beer’s law was obeyed in a concentration limit of 1~9 µg mL-1 for taurine. R.S.D. was less than 1.5%, and average recovery was over 100.3%. The stoichiometry of the complex was found to be 1:1 ratio by Job’s and straight line methods between the donor and the acceptor. The thermodynamic standard reaction quantities of the complex between the donor and the acceptor were estimated. The developed method could be applied successfully for the determination of the studied compound in the pharmaceutical dosage form with a good precision and accuracy compared to official and reported method as revealed by t- and F-tests.

Abstract This study aimed to investigate the potential of a novel preparation strategy for glycosylated hydrolysate by liquid fermentation in order to provide a high-quality glycosylated hydrolysate. Protein solubility, surface hydrophobicity and antioxidant activity were evaluated. The results of Fourier transform infrared spectra demonstrated the occurrence of glycosylation reaction. The results of Fluorescence emission spectroscope revealed the decrease of tertiary conformation stability. Circular dichroism spectra revealed significant decrease in α-helix and increase in β-sheet and random coil by glycosylation reaction. In comparison with zein hydrolysate, glycosylated hydrolysate had lower surface hydrophobicity but higher in solubility and in vitro digestibility due to glycosylation. Glycosylated hydrolysate presented higher ABTS (2,2'-Azinobis [3-ethylbenzothiazoline-6-sulfonic acid]-diammonium salt) and superoxide radicals scavenging activities as well as Cu2+ chelating capacity. It is concluded that the glycosylation confer an open structure and modified properties of zein, and glycosylated hydrolysate is a potential ingredient with better hydration and antioxidant activities than zein hydrolysate.

ABSTRACT In this study, our goal was to clarify the role of proteasomal subunit α-1 (PSMA1) in both the differentiation of preadipocytes and the accumulation of lipids in adipocytes. Preadipocytes from healthy one-day-old calves were collected, isolated, and cultured in vitro. The expression pattern of the PSMA1 gene was explored during the differentiation of bovine preadipocytes firstly. Then, the expression of the PSMA1 gene was inhibited by transfection of a chemically synthesized small interfering RNA (siRNA) before differentiation. After induction of differentiation, the mRNA levels of key regulating genes involved in preadipocyte differentiation and the lipid content of mature adipocytes with and without inhibition of PSMA1 were detected by qRT-PCR and oil red O staining, respectively. The data showed that PSMA1 mRNA was differentially expressed during the differentiation of bovine preadipocytes under normal culture conditions in vitro. The expression level of peroxisome proliferator-activated receptor gamma (PPARγ), CCAAT enhancer-binding protein alpha (C/EBPα), and lipoprotein lipase (LPL) were significantly decreased in the transfected PSMA1-siRNA group compared with those in the control group, and the mRNA levels of the preadipocyte factor-1 (Pref-1) were significantly upregulated in the transfected PSMA1-siRNA group compared with those in the control group. In addition, significantly fewer lipid droplets were formed by adipocytes transfected with PSMA1-siRNA than by the negative control group (adipocytes transfected with NC-siRNA). Therefore, PSMA1 plays an important role in differentiation and lipid deposition.