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Wang L.,Central South University | Guo J.-F.,Central South University | Zhang W.-W.,Central South University | Xu Q.,Central South University | And 9 more authors.
Journal of Clinical Neuroscience | Year: 2011

The Grb10-interacting GYF protein-2 gene (GIGYF2) is a PARK11 gene that reportedly has a causal role in familial Parkinson's disease (PD) among populations from Italy and France. However, no comprehensive study of the GIGYF2 gene has been conducted among PD patients from mainland China. In our previous study, the GIGYF2 gene was directly sequenced, and nine missense variants and 14 polymorphisms were identified. For these 14 polymorphisms, in the present study we performed a case-control analysis for 300 PD patients and 200 healthy controls from mainland China. The c.297T>C p.Ala99Ala polymorphism was associated with increased risk with respect to the pathogenesis of sporadic PD. In conclusion, within the Chinese population, the c.297T>C p.Ala99Ala polymorphism of the GIGYF2 gene may be associated with an increased risk of developing PD. © 2011 Elsevier Ltd. All rights reserved.

Ning W.-B.,Central South University | Hu G.-Y.,Central South University | Peng Z.-Z.,Central South University | Wang L.,Central South University | And 7 more authors.
International Immunopharmacology | Year: 2011

Objectives: The present study was designed to investigate the inhibitory effects of fluorofenidone on Ang II-induced apoptosis in renal tubular cells and the related signaling pathway. Methods: Rat proximal tubular epithelial cells (NRK-52E) were used to examine the anti-apoptosis effects of fluorofenidone. Cell proliferation was assessed by methyl thiazolyl tetrazolium assay. Apoptosis was examined by AO/EB staining and TUNEL assay. The expression of Fas/FasL pathway members, including Fas, FasL, Bax, Bcl-2, Caspase-8, and Caspase-3 was detected by real-time RT-PCR and/or Western blot, respectively. The activity of Caspase-8 and Caspase-3 was detected by spectrophotometry. Results: Fluorofenidone didn't affect the proliferation of NRK-52E cells, but significantly inhibited the apoptosis of NRK-52E cells induced by Ang II. Fluorofenidone significantly reduced Ang II-induced increases in Fas, FasL, Bax, Caspase-8 and Caspase-3 at the mRNA level. Consistent with these observations, fluorofenidone also prevented Ang II-mediated up-regulation of FasL and Bax at the protein level. Additionally, Ang II-induced activation of Caspase-8 and Caspase-3 as well as Ang II-initiated downregulation of Bcl-2 at both mRNA and protein levels was all prevented by fluorofenidone. Conclusions: Fluorofenidone can inhibit Ang II-induced apoptosis of renal tubular cells through blockage of the Fas/FasL pathway. © 2011 Elsevier B.V.

Liu C.,State Key Laboratory of Medical Genetics of China | Liu C.,University of Illinois at Chicago | Chung M.,University of Illinois at Chicago
Neuroscience Bulletin | Year: 2015

Circadian rhythm alterations have been implicated in multiple neuropsychiatric disorders, particularly those of sleep, addiction, anxiety, and mood. Circadian rhythms are known to be maintained by a set of classic clock genes that form complex mutual and self-regulatory loops. While many other genes showing rhythmic expression have been identified by genome-wide studies, their roles in circadian regulation remain largely unknown. In attempts to directly connect circadian rhythms with neuropsychiatric disorders, genetic studies have identified gene mutations associated with several rare sleep disorders or sleep-related traits. Other than that, genetic studies of circadian genes in psychiatric disorders have had limited success. As an important mediator of environmental factors and regulators of circadian rhythms, the epigenetic system may hold the key to the etiology or pathology of psychiatric disorders, their subtypes or endophenotypes. Epigenomic regulation of the circadian system and the related changes have not been thoroughly explored in the context of neuropsychiatric disorders. We argue for systematic investigation of the circadian system, particularly epigenetic regulation, and its involvement in neuropsychiatric disorders to improve our understanding of human behavior and disease etiology. © 2015, Shanghai Institutes for Biological Sciences, CAS and Springer-Verlag Berlin Heidelberg.

Wang H.-H.,Central South University | Wang H.-H.,Province Key Laboratory of Otolaryngology Critical Diseases | Chen H.-S.,Central South University | Chen H.-S.,Province Key Laboratory of Otolaryngology Critical Diseases | And 16 more authors.
Gene | Year: 2014

Waardenburg syndrome type IV (WS4) is a rare genetic disorder, characterized by auditory-pigmentary abnormalities and Hirschsprung disease. Mutations of the EDNRB gene, EDN3 gene, or SOX10 gene are responsible for WS4. In the present study, we reported a case of a Chinese patient with clinical features of WS4. In addition, the three genes mentioned above were sequenced in order to identify whether mutations are responsible for the case. We revealed a novel nonsense mutation, c.1063C>T (p.Q355*), in the last coding exon of SOX10. The same mutation was not found in three unaffected family members or 100 unrelated controls. Then, the function and mechanism of the mutation were investigated in vitro. We found both wild-type (WT) and mutant SOX10 p.Q355* were detected at the expected size and their expression levels are equivalent. The mutant protein also localized in the nucleus and retained the DNA-binding activity as WT counterpart; however, it lost its transactivation capability on the MITF promoter and acted as a dominant-negative repressor impairing function of the WT SOX10. © 2014 Elsevier B.V.

Wang L.,Central South University | Guo J.-F.,Central South University | Nie L.-L.,Central South University | Luo L.,Central South University | And 8 more authors.
Journal of Clinical Neuroscience | Year: 2011

The ubiquitin carboxy-terminal hydrolase L1 gene (UCH-L1) has been implicated in the etiology of Parkinson's disease (PD). In several previous studies, an S18Y (C54A) polymorphism in exon 3 of the UCH-L1 gene has been found to be protective against PD. We performed polymerase chain reaction-restriction fragment length polymorphism analysis for DNA samples from 408 Chinese patients with PD and 398 Chinese healthy controls. For the S18Y variant, there was no significant difference either in the individual allele or genotype frequencies between cases and control subjects. Possession of the S18Y variant did not alter the risk of developing PD (odds ratio: 0.827; 95% confidence interval = 0.596-1.147). There was no statistically significant difference in terms of age or sex distribution between the patients and controls (p > 0.05). Overall, considering our present results together with those of our previous studies, we now have access to data from more than 1000 patients from different regions of China, supporting the conclusion that the S18Y polymorphism may not have a protective effect against PD in the Chinese population. © 2010 Elsevier Ltd. All rights reserved.

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