Assessment of risk factor variants of LRRK2, MAPT, SNCA and TCEANC2 genes in Hungarian sporadic Parkinson’s disease patients

Boros, Fanni Annamária; Török, Rita; Vágvölgyi-Sümegi, Evelin; Pesei, Zsofia Gabriella; Klivényi, Péter; Vécsei, László

doi:10.1016/j.neulet.2019.05.014

Cited by 5 publications

(4 citation statements)

References 40 publications

(45 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The results were bimodal. Studies from nine countries (Austria, Greece, Hungary, India, Iran, Israel, Mexico, Slovakia, and the United States) reported zero G2385R carriers from a total sample of 1,367 PD cases [62,64,68,78,79,81,[87][88][89]. Studies from the other six countries yielded pooled prevalence estimates of 11.2% (Japan), 10.3% (China), 9.9% (South Korea), 9.7% (Taiwan), 5.9% (Singapore), and 1.2% (Kazakhstan) from a total sample of 13,087 PD cases [46][47][48]57,63,[90][91][92][93][94][95][96][97][98][99][100][101][102][103][104][105][106][107].…”

Section: G2385r and R1628pmentioning

confidence: 99%

“…The results for R1628P were also bimodal. Studies from seven countries (Hungary, Iran, Israel, Japan, Kazakhstan, Slovakia, and the United States) reported zero R1628P carriers from a total sample of 1,656 PD cases [48,57,62,64,78,81,87,108]. Studies from the other four countries yielded pooled prevalence estimates of 11.1% (Thailand), 7.5% (Taiwan), 5.4% (Singapore), and 5.3% (China) from a total sample of 6,264 PD cases [55,63,91,95,102,104,[109][110][111][112][113].…”

Section: G2385r and R1628pmentioning

confidence: 99%

See 1 more Smart Citation

Prevalence of ten LRRK2 variants in Parkinson's disease: A comprehensive review

Simpson

Vinikoor-Imler

Nassan

et al. 2022

Parkinsonism & Related Disorders

View full text Add to dashboard Cite

Section: G2385r and R1628pmentioning

confidence: 99%

Section: G2385r and R1628pmentioning

confidence: 99%

Prevalence of ten LRRK2 variants in Parkinson's disease: A comprehensive review

Simpson

Vinikoor-Imler

Nassan

et al. 2022

Parkinsonism & Related Disorders

View full text Add to dashboard Cite

“…Besides various environmental and lifestyle factors identified as triggers and/or facilitators of the disease [7], several genetic alterations have been found to be related to the disorder. In addition to 21 PARK genes described in the human genome as potential direct culprits of the disease [8], genetic variants of 26 loci have been proposed to be disease risk modifiers [9,10]. These genes encode proteins post-translation levels (for a review, see [12,14]).…”

Section: Introductionmentioning

confidence: 99%

NEAT1 on the Field of Parkinson’s Disease: Offense, Defense, or a Player on the Bench?

Boros

Vécsei

Klivényi

2021

JPD

Self Cite

View full text Add to dashboard Cite

Parkinson’s disease (PD) is the second most common neurodegenerative disease worldwide. Considering the devastating symptoms, high prevalence, and lack of definitive diagnostic test, there is an urgent need to identify possible biomarkers and new therapeutic targets. Genes identified and/or proposed to be linked to PD encode proteins that fulfill diverse roles in cellular functions. There is a growing interest in identifying common traits which lead to the disease. Long non-coding RNAs have recently emerged as possible regulatory hubs of complex molecular changes affecting PD development. Among them, NEAT1 has attracted particular interest. It is a major component and the initiator of nuclear paraspeckles, thus regulating transcription and modifying protein functions. This review summarizes data available on the role of NEAT1 in PD. NEAT1 upregulation in PD has repeatedly been reported, however, whether this is part of a protective or a damaging mechanism is still a topic of debate. It has been proposed that NEAT1 propagates PD via its interaction with PINK1 and several micro RNAs and by modulating SNCA expression. On the other hand, findings of NEAT1 acting as a bona fide LRRK2 inhibitor argue for its protective role. These contradictory results could be due to the different disease models implemented. This calls attention to the difficulties posed by the complex patho-mechanisms of neurodegenerative disorders and the limitations of disease models. However, the potential of NEAT1 as a biomarker and as a therapeutic target for PD highly warrants further research to elucidate its exact role in this neurodegenerative disorder.

show abstract

“…Another investigation of newborns on global DNA methylation level and prenatal mercury exposure showed that the methylation level in the gene of transcription elongation factor A (SII) N-terminal and central domain containing 2 ( TCEANC2 ) was associated with cord blood mercury levels [ 95 ]. The TCEANC2 gene is a known risk factor for sporadic Parkinson’s disease [ 96 ]; however, the implication of the epigenetic changes to neurobehavioral functions in developing children is unknown.…”

Section: Introductionmentioning

confidence: 99%

Developmental exposure to methylmercury and ADHD, a literature review of epigenetic studies

Tinkov

Skalny

et al. 2021

Environmental Epigenetics

View full text Add to dashboard Cite

Attention-deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder that affects the competence of academic performance and social wellness in children and adults. The causes of ADHD are unclear. Both genetic and environmental factors contribute to the development of ADHD. The behavioral impairments in ADHD are associated with epigenetic changes in genes that are important for neurodevelopment. Among environmental causes of ADHD, the neurotoxin methylmercury (MeHg) is associated with an increased risk for ADHD. Developing children are susceptible to neurotoxic effects of prenatal MeHg exposure. Human epidemiology studies have shown that prenatal MeHg exposure could invoke epigenetic changes in genes that are involved in ADHD. In addition, the pathogenesis of ADHD involves dopaminergic system, which is a target of developmental MeHg exposure. MeHg-induced alterations in the dopaminergic system have a profound impact on behavioral functions in adults. As a trace level of MeHg (around nM) can induce long-lasting behavioral alterations, potential mechanisms of MeHg-induced functional changes in the dopaminergic system may involve epigenetic mechanisms. Here, we review the relevant evidence on developmental MeHg exposures and the risk for ADHD. We also point out research gaps in understanding environmental causes of ADHD.

show abstract

Assessment of risk factor variants of LRRK2, MAPT, SNCA and TCEANC2 genes in Hungarian sporadic Parkinson’s disease patients

Cited by 5 publications

References 40 publications

Prevalence of ten LRRK2 variants in Parkinson's disease: A comprehensive review

Prevalence of ten LRRK2 variants in Parkinson's disease: A comprehensive review

NEAT1 on the Field of Parkinson’s Disease: Offense, Defense, or a Player on the Bench?

Developmental exposure to methylmercury and ADHD, a literature review of epigenetic studies

Contact Info

Product

Resources

About