scholarly journals The Genetic Link between Parkinson’s Disease and the Kynurenine Pathway Is Still Missing

2015 ◽  
Vol 2015 ◽  
pp. 1-7 ◽  
Author(s):  
Nóra Török ◽  
Rita Török ◽  
Zoltán Szolnoki ◽  
Ferenc Somogyvári ◽  
Péter Klivényi ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Age At Onset ◽  
Kynurenine Pathway ◽  
Regulatory Proteins ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Genetic Link ◽  
Biochemical Alterations ◽  
The Brain

Background. There is substantial evidence that the kynurenine pathway (KP) plays a role in the normal physiology of the brain and is involved in the pathology of neurodegenerative disorders such as Huntington’s disease and Parkinson’s disease (PD).Objective. We set out to investigate the potential roles in PD of single nucleotide polymorphisms (SNPs) from one of the key enzymes of the KP, kynurenine 3-monooxygenase (KMO).Methods. 105 unrelated, clinically definitive PD patients and 131 healthy controls were enrolled to investigate the possible effects of the different alleles of KMO. Fluorescently labeled TaqMan probes were used for allele discrimination.Results. None of the four investigated SNPs proved to be associated with PD or influenced the age at onset of the disease.Conclusions. The genetic link between the KP and PD is still missing. The investigated SNPs presumably do not appear to influence the function of KMO and probably do not contain binding sites for regulatory proteins of relevance in PD. This is the first study to assess the genetic background behind the biochemical alterations of the kynurenine pathway in PD, directing the attention to this previously unexamined field.

scholarly journals SNCA and mTOR Pathway Single Nucleotide Polymorphisms Interact to Modulate the Age at Onset of Parkinson's Disease

2019 ◽  
Vol 34 (9) ◽  
pp. 1333-1344 ◽  
Author(s):  
Rubén Fernández‐Santiago ◽  
Núria Martín‐Flores ◽  
Francesca Antonelli ◽  
Catalina Cerquera ◽  
Verónica Moreno ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Single Nucleotide Polymorphisms ◽  
Age At Onset ◽  
Mtor Pathway ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide

scholarly journals Interactions of COMT and ALDH2 Genetic Polymorphisms on Symptoms of Parkinson’s Disease

2021 ◽  
Vol 11 (3) ◽  
pp. 361
Author(s):  
Rwei-Ling Yu ◽  
Shao-Ching Tu ◽  
Ruey-Meei Wu ◽  
Pei-An Lu ◽  
Chun-Hsiang Tan
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Detrimental Effect ◽  
Personal Hygiene ◽  
Nucleotide Polymorphisms ◽  
Monoamine Neurotransmitters ◽  
Single Nucleotide ◽  
Detrimental Impact ◽  
Reduced Activity ◽  
Insight Into

(1) Background: Monoamine neurotransmitters play essential roles in the normal functioning of our nervous system. However, the metabolism of monoamine neurotransmitters is accompanied by the production of neurotoxic metabolites, and inefficient removal of the metabolites has been suggested to cause neurodegeneration. (2) Methods: To examine the effect of reduced activity of catechol-O-methyltransferase (COMT) and aldehyde dehydrogenase 2 (ALDH2) conferred by single nucleotide polymorphisms COMT rs4680(A) and ALDH2 rs671(A) on the symptoms of patients with Parkinson’s disease (PD), a total of 114 PD patients were recruited cross-sectionally and received genotyping for rs4680 and rs671 along with MDS-UPDRS evaluation. (3) Results: We found that patients carrying rs4680(A) had more severe bradykinesia in the upper extremity and rest tremor. Besides, patients carrying rs671(A) had more difficulty maintaining personal hygiene, while patients with genotype rs671(GG) had higher scores in the item “depressed mood.” More importantly, we found the effect of rs4680 to be moderated by rs671 SNP for the symptom of “hand movements.” The detrimental impact of rs4680(A) is more pronounced in the presence of genotype rs671(GG). (4) Conclusions: This study facilitates a deeper understanding of the detrimental effect of reduced activity of COMT and ALDH2 conferred by genetic variation and provides novel insight into the interactions between enzymes metabolizing monoamine neurotransmitters in the pathogenesis of PD.

Association studies of multiple candidate genes for Parkinson's Disease using single nucleotide polymorphisms

2002 ◽  
Vol 51 (4) ◽  
pp. 534-534 ◽  
Author(s):  
Yoshio Momose ◽  
Miho Murata ◽  
Kazuhiro Kobayashi ◽  
Masaji Tachikawa ◽  
Yuko Nakabayashi ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Single Nucleotide Polymorphisms ◽  
Candidate Genes ◽  
Association Studies ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide

Association studies of multiple candidate genes for Parkinson's disease using single nucleotide polymorphisms

2002 ◽  
Vol 51 (1) ◽  
pp. 133-136 ◽  
Author(s):  
Yoshio Momose ◽  
Miho Murata ◽  
Kazuhiro Kobayashi ◽  
Masaji Tachikawa ◽  
Yuko Nakabayashi ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Single Nucleotide Polymorphisms ◽  
Candidate Genes ◽  
Association Studies ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide

Single-nucleotide polymorphisms in the promoter region of the PARKIN gene and Parkinson's disease

2002 ◽  
Vol 329 (2) ◽  
pp. 149-152 ◽  
Author(s):  
Ignacio F Mata ◽  
Victoria Alvarez ◽  
Vanessa Garcı́a-Moreira ◽  
Luis M Guisasola ◽  
René Ribacoba ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Single Nucleotide Polymorphisms ◽  
Promoter Region ◽  
Nucleotide Polymorphisms ◽  
Parkin Gene ◽  
Single Nucleotide

scholarly journals Polymorphisms of Interleukin-6 and Interleukin-8 Are Not Associated with Parkinson’s Disease in Taiwan

2021 ◽  
Vol 11 (6) ◽  
pp. 768
Author(s):  
Tsai-Wei Liu ◽  
Yih-Ru Wu ◽  
Yi-Chun Chen ◽  
Hon Chung Fung ◽  
Chiung-Mei Chen
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Genetic Variants ◽  
Late Onset ◽  
Age At Onset ◽  
Nucleotide Polymorphisms ◽  
Taiwanese Population ◽  
Negative Results ◽  
Allelic Distribution ◽  
And Gender

Background: Studies have suggested that cytokines are crucial mediators in the pathogenesis of Parkinson’s disease (PD). The multifunctional cytokine interleukin (IL)-6 and its single nucleotide polymorphisms (SNPs) were found to have an impact on the development of PD. However, different studies in associations of IL-6 genetic variants with PD showed inconsistent results and it has never been explored in a Taiwanese population. Both IL-1α and IL-8 contribute to the same inflammation pathway. IL-1α genetic polymorphism has an effect on late-onset PD in Taiwan, whereas the associations of IL-8 genetic variants with PD in Taiwan remain to be investigated. Methods: This study examined the frequencies of polymorphisms within the critical promoter areas of the proinflammatory cytokine genes: IL-6 G-174C (rs1800795) and IL-8 A-251T (rs4073) in Taiwanese PD patients compared with age-and gender-matched healthy subjects. Comparisons were also made in genotype and allele frequencies of IL-6 G-174C (rs1800795) and IL-8 A-251T (rs4073) among different populations in previous studies. Results: In total, 1120 subjects, including 509 PD patients (female/male: 259/250) and 511 control subjects (female/male: 252/259), were recruited. We found no statistically significant differences in IL-6 G-174C (rs1800795) or IL-8 A-251T (rs4073) genotypic and allelic distribution between PD and controls, even after being stratified by age at onset and gender. Conclusions: The results did not demonstrate any association of IL-6 G-174C (rs1800795) or IL-8 A-251T (rs4073) with PD in a Taiwanese population. Despite the negative results, this is the first study in associations of IL-6 G-174C (rs1800795) and IL-8 A-251T (rs4073) with PD in Taiwan. The relevance of genetic variants of IL-6 G-174C (rs1800795) or IL-8 A-251T (rs4073) on PD susceptibility warrants further investigation.

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