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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

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. Source

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

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. Source

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

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. Source

Guo J.-F.,Central South University | Wang L.,Central South University | He D.,Central South University | Yang Q.-H.O.,center | And 6 more authors.
Neurological Sciences

Mutations in the Parkin, PINK1, and DJ-1 genes can cause autosomal recessive early onset Parkinsonism. We studied three families with the mutations of the Parkin, PINK1 and DJ-1 genes, respectively, with a dopamine transporter ligand [11C]-CFT positron emission tomography. A marked bilaterally and dissymmetrically decrement of [11C]-CFT uptake was found in all these patients, and putamen as well as caudate nucleus was affected. We also found asymptomatic Parkin and PINK1 heterozygotes showed a mild but significant decrement in [11C]-CFT uptake, but this phenomenon was not found in the DJ-1-heterozygotes. Our results suggested the three autosomal recessive forms of early onset are similar to each other on pathophysiological grounds, a sub-clinical disease process in Parkin and PINK1-heterozygotes, but not in DJ-1-heterozygotes. © 2010 Springer-Verlag. Source

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

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. Source

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