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Zhang B.-R.,Zhejiang University | Tian J.,Zhejiang University | Yan Y.-P.,Zhejiang University | Yin X.-Z.,Zhejiang University | And 5 more authors.
Journal of the Neurological Sciences | Year: 2012

Huntington's disease (HD) is caused by the abnormal expansion of CAG repeats in the huntingtin gene (HTT). The adjacent proline-rich region, which also has a CCG polymorphism among people of different races, may also affect the pathogenesis of HD. To study the effect of this polymorphism on patients with HD in mainland China, 53 HD mutant alleles were examined. The results showed that 54.72% of the HD mutant alleles had 10-repeat alleles, and the remaining 45.28% had 7-repeat alleles. Moreover, comparison of the clinical features between the two groups revealed no significant difference. We also investigated its effect on the aggregates in vitro. No significant difference was detected when the morphology and size of the aggregates with the two polymorphisms was compared in cells. Given these findings, it was quite reasonable to suppose that the CCG polymorphism may not influence the pathogenesis of patients with HD in mainland China. © 2011 Elsevier B.V.

He Y.,Central South University | He Y.,The Second Affiliated Hospital of Xinxiang Medical College | Xun G.,Central South University | Xia K.,National Laboratory of Medical Genetics of China | And 4 more authors.
Psychiatry Research | Year: 2011

The present study genotyped four SNPs (rs736707, rs2229864, rs362691, and rs2073559) of the Reelin gene (RELN) in 165 autistic trios, 67 sporadic autistic children and 283 healthy controls with Chinese Han pedigree. Both case-control analysis and transmission disequilibrium test (TDT) found no evidence of significant association. The results do not support previous positive findings and suggest that the four single-nucleotide polymorphisms (SNP) of RELN are unlikely to be associated with childhood autism in Chinese Han population. © 2010 Elsevier Ltd.

Wang C.-Y.,Central South University | Xu Q.,Central South University | Weng L.,Central South University | Zhang Q.,Central South University | And 7 more authors.
Brain Research | Year: 2011

Parkinson's disease (PD) is the second most common neurodegenerative disorder, with approximately 5-10% of PD cases being linked to genetic factors. The Htra serine peptidase 2 (HTRA2) gene, also known as Omi, was found to be associated with PD in a cohort of German PD patients. However, subsequent studies have indicated that some variants of Omi/HTRA2 may not be related to PD. In order to investigate whether the Omi/HTRA2 gene is related to PD in Han Chinese PD patients, molecular analysis for the Omi/HTRA2 gene was performed in 404 Chinese PD patients and 504 normal individuals. Our present study revealed 2 novel variations. The IVS5 + 29T > A variant may be a risk factor for PD (P < 0.05), while the c.G77A variant might be a pathogenic mutation. However, the findings need to be validated in a larger population using further functional studies. © 2011 Elsevier B.V.

Guo J.-F.,Central South University | Zhang X.-W.,Central South University | Nie L.-L.,Central South University | Zhang H.-N.,Central South University | And 6 more authors.
Journal of Neurology | Year: 2010

Early onset parkinsonism (EOP) has been associated with mutations in the Parkin, PINK1, and DJ-1 genes. We studied the prevalence of mutations in all three genes in 127 unrelated Chinese patients with apparently sporadic EOP using direct sequencing analysis and real-time quantitative PCR analysis assay. There are 16 patients (12.6%) with mutations of Parkin gene, four patients (3.1%) with mutations of PINK1 gene, and three patients (2.4%) with mutation of DJ-1 gene. In conclusion, Parkin gene mutation is the most common pathogenic factor in Chinese patients with sporadic EOP. Mutations of DJ-1 and PINK1 gene are also found in Chinese patients with sporadic EOP. © 2010 Springer-Verlag.

Yuan X.-L.,Central South University | Guo J.-F.,Central South University | Shi Z.-H.,Academia Sinica, China | Shi Z.-H.,Hebei Normal University | And 5 more authors.
Brain Research | Year: 2010

The identification of rare monogenic forms of Parkinson's disease (PD) has provided tremendous insights into the molecular pathogenesis of the disorder. Mitochondrial dysfunction and oxidative stress are thought to play a prominent role in the pathogenesis of PD, but how the monogenic mutation gene causes the disease onset or progression is largely unknown. In this study we investigated the effects of wild-type and R492X mutation in the PTEN-induced putative kinase 1 (PINK1). Cell cultures show that R492X PINK1 mutation induces the generation of cellular reactive oxidative species (ROS), degrades cell membrane potential, causes cytochrome C (Cyt.C) release from mitochondrial to cytoplasm, attenuates mitochondrial complex I activity, and lastly, causes changes in mitochondrial numbers and morphology; especially when cells are treated with 1-Methyl-4-phenylpyridinium ion (MPP+). Our results suggest that the R492X mutation can cause mitochondrial dysfunction and oxidative stress and can associate with MPP+ to induce mitochondrial dysfunction and oxidative stress. © 2010 Elsevier B.V.

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