Systematic analysis of genetic variants in patients with essential tremor

Yuan, Lamei; Deng, Xiong; Song, Zhi; Deng, Sheng; Zheng, Wen; Mao, Ping; Deng, Hao

doi:10.1002/brb3.1100

Cited by 6 publications

(2 citation statements)

References 37 publications

(67 reference statements)

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“…Common genetic variants in the MC1R gene, which determines skin and hair color, are associated with melanoma 20 . Moreover, the rs34090186 MC1R variant, which was identified as a risk factor in PD, was also identified as a risk factor in essential tremor (ET), further confirming a possible association between ET and PD 21 . A closer assessment of the various genes, and of the cellular pathways in which they are involved, suggests the involvement of: (1) protein misfolding and degradation (Parkin, p53), (2) cell‐cycle control and apoptosis (DJ‐1, p53, LRRK2), (3) mitochondria and oxidative stress (PINK1, DJ‐1), and (4) PI3K‐AKT‐mTOR (PINK1, LRRK2, DJ‐1, and PTEN) (Table 1, Fig.…”

Section: The Interplay Between Pd‐ and Melanoma‐associated Proteinsmentioning

confidence: 88%

Cancer and Parkinson's Disease: Common Targets, Emerging Hopes

Filippou

Outeiro

2020

Movement Disorders

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Cancer and neurodegeneration are two major leading causes of morbidity and death worldwide. At first sight, the two fields do not seem to share much in common and, if anything, might be placed on opposite ends of a spectrum. Although neurodegeneration results in excessive neuronal cell death, cancer emerges from increased proliferation and resistance to cell death. Therefore, one might expect significant differences in the underlying pathophysiological mechanisms. However, the more we deepen our understanding of these two types of diseases, the more we appreciate the unexpected overlap between them. Although most epidemiological studies support an inverse association between the risk for development of neurodegenerative diseases and cancer, increasing evidence points to a positive correlation between specific types of cancer, like melanoma, and neurodegenerative diseases, like Parkinson's disease (PD). We believe that deciphering the molecular processes and pathways underlying one of these diseases may significantly increase our understanding about the other. Therefore, the identification of novel biomarkers and therapeutic approaches in cancer, may lead to improved diagnosis and treatment of neurodegeneration, and vice versa. In this Viewpoint, we summarize recent findings connecting both diseases and speculate that insights from one disease may inform on mechanisms, and help identify novel biomarkers and targets for intervention, possibly leading to improved management of both diseases. © 2020 International Parkinson and Movement Disorder Society

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Section: The Interplay Between Pd‐ and Melanoma‐associated Proteinsmentioning

confidence: 88%

Cancer and Parkinson's Disease: Common Targets, Emerging Hopes

Filippou

Outeiro

2020

Movement Disorders

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“…Hardy-Weinberg equilibrium was applied to estimate the normal deviation of genotypes in 308 controls. Genotypic and allelic frequencies were calculated, and Pearson's χ 2 tests were completed for testing significances of genotypic and allelic frequency differences between the 308 PD patients and 308 controls, in which a two-tailed P < 0.05 was considered statistically significant (22,23). All statistical analysis was performed using Predictive Analytics Software Statistics 18.0 (SPSS Inc., Chicago, IL).…”

Section: Statistical Analysis and Pubmed Database Screeningmentioning

confidence: 99%

Extended Study of NUS1 Gene Variants in Parkinson's Disease

et al. 2020

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Parkinson's disease (PD), is the second most common neurodegenerative disorder worldwide. Genetic, environmental factors, and aging are its primary development contributors. Recently the nuclear undecaprenyl pyrophosphate synthase 1 homolog (Saccharomyces cerevisiae) gene (NUS1) was reported as a candidate gene for PD, which raised our interest in the relationship between NUS1 and PD. This study was aimed to further explore the role of NUS1 variants in PD development. Genetic analysis for 308 Han-Chinese PD patients and 308 ethnically matched controls using whole exome sequencing was conducted. Additionally, a total of 60 articles involving in whole exome/whole genome sequencing or direct sequencing of the NUS1 gene from PubMed database between July 1, 2011 and August 26, 2020 were reviewed to evaluate PD-associated NUS1 variants. No potentially pathogenic NUS1 variant was found in 308 PD cases, and no frequency biases between 308 PD cases and 308 controls were observed for the only non-synonymous variant p.Asp179Glu (genotype: χ 2 = 0.093, P = 0.761; allele: χ 2 = 0.092, P = 0.762). No pathogenic or disease-associated NUS1 variant was reported in the 5,636 PD cases of the 60 articles. In summary, current findings indicate that NUS1 variant is not a common genetic factor contributing to PD.

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Rare variant analysis of essential tremor‐associated genes in early‐onset Parkinson’s disease

Liang

Zhao

Pan

et al. 2020

Ann Clin Transl Neurol

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Objective Parkinson’s disease (PD) and essential tremor (ET) are the two most common movement disorders. A significant overlap in clinical features, epidemiology, imaging, and pathology suggests that PD and ET may also share common genetic risk factors. Previous studies have only assessed a limited number of ET‐associated genes in PD patients and vice versa. Consequently, the genetic association between PD and ET remains incompletely characterized. In this study, we systematically investigated a potential association between rare coding variants in ET‐associated genes and PD, in a relatively large Chinese population cohort. Methods To investigate the genetic association between ET and PD, we performed the sequence kernel association testing (SKAT‐O) to explore the variant burden of 33 ET‐associated genes, using whole‐exome sequencing (WES) data from 1494 early‐onset PD (EOPD) patients and 1357 control subjects from mainland China. Results We report that rare loss‐of‐function and damaging missense variants of TNEM4 are suggestively associated with EOPD (P = 0.026), damaging missense variants of TNEM4 alone are also suggestively associated with EOPD (P = 0.032). No other rare damaging variants in ET‐related genes were significantly associated with EOPD. Interpretation This is the first systematic analysis of ET‐associated genes in EOPD. The suggestive association between TNEM4 and EOPD provides new evidence for a genetic link between ET and PD.

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Systematic analysis of genetic variants in patients with essential tremor

Cited by 6 publications

References 37 publications

Cancer and Parkinson's Disease: Common Targets, Emerging Hopes

Cancer and Parkinson's Disease: Common Targets, Emerging Hopes

Extended Study of NUS1 Gene Variants in Parkinson's Disease

Rare variant analysis of essential tremor‐associated genes in early‐onset Parkinson’s disease

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