scholarly journals The lack of association between ubiquinol‐cytochrome c reductase core protein I ( UQCRC1 ) variants and Parkinson's disease in an eastern Chinese population

2020 ◽  
Vol 26 (9) ◽  
pp. 990-992 ◽  
Author(s):  
Zhi‐Hao Lin ◽  
Ran Zheng ◽  
Yang Ruan ◽  
Ting Gao ◽  
Chong‐Yao Jin ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Cytochrome C ◽  
Chinese Population ◽  
Core Protein ◽  
Cytochrome C Reductase

Prevalence of Parkinson's disease in a Chinese population

2003 ◽  
Vol 109 (3) ◽  
pp. 228-231 ◽  
Author(s):  
J. Woo ◽  
E. Lau ◽  
E. Ziea ◽  
D. K. Y. Chan
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Chinese Population

scholarly journals Evaluation of novel Parkinson's disease candidate genes in the Chinese population

2019 ◽  
Vol 74 ◽  
pp. 235.e1-235.e4 ◽  
Author(s):  
Elaine Guo Yan Chew ◽  
Herty Liany ◽  
Louis C.S. Tan ◽  
Wing-Lok Au ◽  
Kumar-M. Prakash ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Candidate Genes ◽  
Chinese Population

Haplotype Analysis on the Relationship of the DNAJC6 Gene with Early-Onset Parkinson’s Disease Risk in a Chinese Population

2019 ◽  
Vol 9 (1) ◽  
pp. 109-120
Author(s):  
Ting Shen ◽  
Shuai Zhao ◽  
Yasi Jiang ◽  
Jiali Pu ◽  
Hsin-Yi Lai ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Early Onset ◽  
Chinese Population ◽  
Haplotype Analysis ◽  
Disease Risk ◽  
Relationship Of ◽  
The Relationship ◽  
Early Onset Parkinson’S Disease

Four novel rare mutations of PLA2G6 in Chinese population with Parkinson's disease

2013 ◽  
Vol 19 (1) ◽  
pp. 21-26 ◽  
Author(s):  
Ya-Xing Gui ◽  
Zhong-Ping Xu ◽  
Wen-Lv ◽  
Hong-mei Liu ◽  
Jin-Jia Zhao ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Chinese Population ◽  
Rare Mutations

Genetic analysis of LRRK2 in Parkinson's disease in Han Chinese population

2018 ◽  
Vol 72 ◽  
pp. 187.e5-187.e10 ◽  
Author(s):  
Jin-Ru Zhang ◽  
Hong Jin ◽  
Kai Li ◽  
Cheng-Jie Mao ◽  
Ya-Ping Yang ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Genetic Analysis ◽  
Chinese Population ◽  
Han Chinese ◽  
Han Chinese Population

Rare Missense Variants in The Ppp2r5dgene Associated with Parkinson's Disease in the Han Chinese Population

2021 ◽  
Author(s):  
Pingping Ning ◽  
Kelu Li ◽  
Hui Ren ◽  
Yanming Xu ◽  
Xinglong Yang
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Chinese Population ◽  
Han Chinese ◽  
Han Chinese Population ◽  
Missense Variants

scholarly journals The role of genetics in Parkinson’s disease: a large cohort study in Chinese mainland population

Brain ◽  
2020 ◽  
Vol 143 (7) ◽  
pp. 2220-2234 ◽  
Author(s):  
Yuwen Zhao ◽  
Lixia Qin ◽  
Hongxu Pan ◽  
Zhenhua Liu ◽  
Li Jiang ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Chinese Population ◽  
Autosomal Recessive ◽  
Age At Onset ◽  
Mainland China ◽  
Mainland Chinese ◽  
Pathogenic Variants ◽  
Disease Associated Genes ◽  
Mainland Chinese Population

Abstract This study aimed to determine the mutational spectrum of familial Parkinson’s disease and sporadic early-onset Parkinson’s disease (sEOPD) in a mainland Chinese population and the clinical features of mutation carriers. We performed multiplex ligation-dependent probe amplification assays and whole-exome sequencing for 1676 unrelated patients with Parkinson’s disease in a mainland Chinese population, including 192 probands from families with autosomal-recessive Parkinson’s disease, 242 probands from families with autosomal-dominant Parkinson’s disease, and 1242 sEOPD patients (age at onset ≤ 50). According to standards and guidelines from the American College of Medical Genetics and Genomics, pathogenic/likely pathogenic variants in 23 known Parkinson’s disease-associated genes occurred more frequently in the autosomal-recessive Parkinson’s disease cohort (65 of 192, 33.85%) than in the autosomal-dominant Parkinson’s disease cohort (10 of 242, 4.13%) and the sEOPD cohort (57 of 1242, 4.59%), which leads to an overall molecular diagnostic yield of 7.88% (132 of 1676). We found that PRKN was the most frequently mutated gene (n = 83, 4.95%) and present the first evidence of an SNCA duplication and LRRK2 p.N1437D variant in mainland China. In addition, several novel pathogenic/likely pathogenic variants including LRRK2 (p.V1447M and p.Y1645S), ATP13A2 (p.R735X and p.A819D), FBXO7 (p.G67E), LRP10 (c.322dupC/p.G109Rfs*51) and TMEM230 (c.429delT/p.P144Qfs*2) were identified in our cohort. Furthermore, the age at onset of the 132 probands with genetic diagnoses (median, 31.5 years) was about 14.5 years earlier than that of patients without molecular diagnoses (i.e. non-carriers, median 46.0 years). Specifically, the age at onset of Parkinson’s disease patients with pathogenic/likely pathogenic variants in ATP13A2, PLA2G6, PRKN, or PINK1 was significantly lower than that of non-carriers, while the age at onset of carriers with other gene pathogenic/likely pathogenic variants was similar to that of non-carriers. The clinical spectrum of Parkinson’s disease-associated gene carriers in this mainland Chinese population was similar to that of other populations. We also detected 61 probands with GBA possibly pathogenic variants (3.64%) and 59 probands with GBA p.L444P (3.52%). These results shed insight into the genetic spectrum and clinical manifestations of Parkinson’s disease in mainland China and expand the existing repertoire of pathogenic or likely pathogenic variants involved in known Parkinson’s disease-associated genes. Our data highlight the importance of genetic testing in Parkinson’s disease patients with age at onset < 40 years, especially in those from families with a recessive inheritance pattern, who may benefit from early diagnosis and treatment.

scholarly journals Overexpression of Ubiquinol-Cytochrome c Reductase Core Protein 1 May Protect H9c2 Cardiac Cells by Binding with Zinc

2017 ◽  
Vol 2017 ◽  
pp. 1-9 ◽  
Author(s):  
Tingting Yi ◽  
Xiaoxiao Wu ◽  
Zonghong Long ◽  
Guangyou Duan ◽  
Zhuoxi Wu ◽  
...  
Keyword(s):  
Cytochrome C ◽  
Caspase 3 ◽  
Direct Evidence ◽  
Core Protein ◽  
Ischemia Reperfusion ◽  
Cardiac Cells ◽  
Protective Effects ◽  
Cytochrome C Reductase ◽  
Simulated Ischemia

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.

Lack of evidence for association of a parkin promoter polymorphism with early-onset Parkinson's disease in a Chinese population

2009 ◽  
Vol 15 (2) ◽  
pp. 149-152 ◽  
Author(s):  
Juliet M. Taylor ◽  
Ruey-Meei Wu ◽  
Chin-Hsien Lin ◽  
Martin B. Delatycki ◽  
Paul J. Lockhart
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Early Onset ◽  
Chinese Population ◽  
Promoter Polymorphism ◽  
Early Onset Parkinson’S Disease
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