Genetic variants in Sporadic Parkinson's Disease: East vs West

Peeraully, Tasneem; Tan, Eng‐King

doi:10.1016/s1353-8020(11)70021-9

Cited by 67 publications

(35 citation statements)

References 19 publications

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“…Peeraully and Tan have discussed that there are genetic differences in sporadic PD between East and West [72]. Huang et al [73] highlighted under-investigation of the genetic origins of described differences.…”

Section: Discussionmentioning

confidence: 99%

Non-Motor Symptoms Assessed by Non-Motor Symptoms Questionnaire and Non-Motor Symptoms Scale in Parkinson's Disease in Selected Asian Populations

Sauerbier

Jitkritsadakul²,

Titova³

et al. 2017

Neuroepidemiology

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Background: Ethnic variations have been described in medical conditions, such as hypertension, diabetes, and multiple sclerosis. Whether ethnicity plays a role in Parkinson's disease (PD), particularly with regard to non-motor symptoms (NMS), remains unclear. Existing literature is diverse, controversial, and inadequately documented. This review aims to analyse and report the currently available literature on NMS, specifically in Asian PD patients. Summary: We conducted a literature review using PubMed, searching for articles and currently available publications that reference and assess NMS in PD patients living in Asia using the validated NMS Questionnaire (NMS Quest) and NMS Scale (NMSS). In total, 24 articles were included: 12 using the NMS Quest and 12 using the NMSS. Symptoms of constipation, memory impairment, and nocturia were the most frequently self-reported symptoms (NMS Quest) in selected Asian populations, while symptoms within the domains sleep/fatigue, attention/memory, and mood/apathy were most prevalent when applying the health-professional completed NMSS. Key Messages: NMS are generally prevalent and highly burdensome within selected Asian PD populations living in countries included in this review. Our review suggests that NMS-driven phenotypic heterogeneity is present in Asian patients, and compared to Western PD populations there might be variations in assessed NMS.

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Section: Discussionmentioning

confidence: 99%

Non-Motor Symptoms Assessed by Non-Motor Symptoms Questionnaire and Non-Motor Symptoms Scale in Parkinson's Disease in Selected Asian Populations

Sauerbier

Jitkritsadakul²,

Titova³

et al. 2017

Neuroepidemiology

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“…Furthermore, as a large number of SNPs are simultaneously examined in GWAS, an extremely low P-value threshold may be employed for genome-wide significance, potentially leading to the omission of some marginally associated genes [43,44]. However, considering that PD is a complex result of interactions between multiple genes and environmental factors and that the genetic backgrounds of the studied populations differ substantially, ethnicity-specific effects should be considered [45,46]. Nevertheless, the present results suggested that the rs2241703 SNP may be a major or even the unique locus associated with PD in Chinese populations.…”

Section: Discussionmentioning

confidence: 99%

miR-486-3p Influences the Neurotoxicity of a-Synuclein by Targeting the SIRT2 Gene and the Polymorphisms at Target Sites Contributing to Parkinson’s Disease

Wang

Cai

Huang

et al. 2018

Cell Physiol Biochem

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Background/Aims: Increasing evidence suggests the important role of sirtuin 2 (SIRT2) in the pathology of Parkinson’s disease (PD). However, the association between potential functional polymorphisms in the SIRT2 gene and PD still needs to be identified. Exploring the molecular mechanism underlying this potential association could also provide novel insights into the pathogenesis of this disorder. Methods: Bioinformatics analysis and screening were first performed to find potential microRNAs (miRNAs) that could target the SIRT2 gene, and molecular biology experiments were carried out to further identify the regulation between miRNA and SIRT2 and characterize the pivotal role of miRNA in PD models. Moreover, a clinical case-control study was performed with 304 PD patients and 312 healthy controls from the Chinese Han population to identify the possible association of single nucleotide polymorphisms (SNPs) within the miRNA binding sites of SIRT2 with the risk of PD. Results: Here, we demonstrate that miR-486-3p binds to the 3’ UTR of SIRT2 and influences the translation of SIRT2. MiR-486-3p mimics can decrease the level of SIRT2 and reduce a-synuclein (α-syn)-induced aggregation and toxicity, which may contribute to the progression of PD. Interestingly, we find that a SNP, rs2241703, may disrupt miR-486-3p binding sites in the 3’ UTR of SIRT2, subsequently influencing the translation of SIRT2. Through the clinical case-control study, we further verify that rs2241703 is associated with PD risk in the Chinese Han population. Conclusion: The present study confirms that the rs2241703 polymorphism in the SIRT2 gene is associated with PD in the Chinese Han population, provides the potential mechanism of the susceptibility locus in determining PD risk and reveals a potential target of miRNA for the treatment and prevention of PD.

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“…Once the actual biomarker signatures are defined and validated, a more specific panel of indicators may be interrogated and utilized to define the state of health (or disease). With advanced sequencing technologies, genomic investigations have effectively defined genetic variants occurring in both familial and sporadic PD cases [57], thereby closing the mechanistic gap between these entities. Further genomic definition of the variabilities between these PD subgroups may contribute to the validation of genetic susceptibility screening and therapeutic intervention in a prodromal stage of the disease.…”

Section: Genomic Studies For Parkinson's Diseasementioning

confidence: 99%

Can population genomics guide future therapeutic gene transfer strategies for Parkinson’s disease?

Fiandaca¹,

Padilla²,

Conteh³

et al. 2013

OJGen

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Genetic variants in Sporadic Parkinson's Disease: East vs West

Cited by 67 publications

References 19 publications

Non-Motor Symptoms Assessed by Non-Motor Symptoms Questionnaire and Non-Motor Symptoms Scale in Parkinson's Disease in Selected Asian Populations

Non-Motor Symptoms Assessed by Non-Motor Symptoms Questionnaire and Non-Motor Symptoms Scale in Parkinson's Disease in Selected Asian Populations

miR-486-3p Influences the Neurotoxicity of a-Synuclein by Targeting the SIRT2 Gene and the Polymorphisms at Target Sites Contributing to Parkinson’s Disease

Can population genomics guide future therapeutic gene transfer strategies for Parkinson’s disease?

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