Human parechoviruses (HPeVs) are widespread pathogens causing a wide spectrum of diseases. The prevalence and genetic diversity of HPeV in children with acute diarrhea in China is not well known. The purpose of this study was to investigate the epidemiological characteristics of HPeV in Guangzhou, China. A total of 328 stool specimens collected from children under the age of 5 years with acute diarrhea were tested for the presence of HPeV. Of these, 44 (13.4 %, 44/328) were HPeV positive, with the majority of the infected children (97.7 %, 43/44) being younger than two years of age. HPeV was more frequently detected during July and August. The epidemiological profile of co-infections was similar to that observed in a previous study. Six different HPeV genotypes, including HPeV1, -3, -4, -5, -6, and -14, were identified, and of these, HPeV14, a rarely reported genotype, was reported for the first time in children with acute gastroenteritis in China. In summary, this study clearly demonstrated that HPeV circulating in Guangzhou, China, is genetically diverse, including six genotypes, and it provides useful epidemiological data on the features of HPeV infection in this area.
The blepharophimosis–ptosis–epicanthus inversus syndrome (BPES) is a rare autosomal dominant disease mainly caused by FOXL2 variants. This genetic disorder is usually characterized by eyelid malformation and ovarian dysfunction. However, no reliable genotype/phenotype correlations have been established considering the ovarian phenotype. Here, we detected 15 FOXL2 variants including nine novel ones from 7 families and 8 sporadic cases, which expanded the spectrum of FOXL2 variants and identified a potential clinical cause. Functional studies, with respect to the effect of FOXL2 on the StAR promoter, showed that non-sense variants that lead to protein truncation before the polyalanine tract and missense variants [c.307C > T; p.(Arg103Cys), c.311A > C; p.(His104Pro), c.320G > A; p.(Ser107Asn), and c.335T > A; p.(Phe112Tyr)] within the central portion of the FOXL2 forkhead domain significantly affect its suppressor activity. Such changes may explain the mechanism underlying a more severe phenotype, more likely to result in BPES type I. Furthermore, the missenses variants c.307C > T; p.(Arg103Cys), c.311A > C; p.(His104Pro), and c.320G > A; p.(Ser107Asn) were not able to transactivate OSR2, which is consistent with the eyelid malformation in these patients. The results from our cohort have expanded the spectrum of FOXL2 variants and have provided insights into genotype/phenotype correlations.
In several recent studies, proteomics analyses suggest that increase of ubiquinol-cytochrome c reductase core protein 1 (UQCRC1) is cardio-protective. However, direct evidence for this effect has not yet been obtained. Thus, the current study aimed to determine this effect and the mechanism underlying this effect. The results showed that overexpression of UQCRC1 protected H9c2 cardiac cells against in vitro simulated ischemia-reperfusion by maintaining mitochondrial membrane potential and suppressing the expression of caspase-3. These protective effects were significantly enhanced by exogenous Zn2+ but completely abolished by Zn2+-selective chelator TPEN. Furthermore, the upregulation of UQCRC1 reduced the concentration of free Zn2+ in mitochondria, whereas the downregulation of UQCRC1 increased the concentration of free Zn2+ in mitochondria. In conclusion, the overexpression of UQCRC1 can protect H9c2 cardiac cells against simulated ischemia/reperfusion, and this cardio-protective effect is likely mediated by zinc binding.
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