Association of COMT, MTHFR, and SLC19A1(RFC-1) polymorphisms with homocysteine blood levels and cognitive impairment in Parkinson’s disease

Białecka, Monika; Kurzawski, Mateusz; Roszmann, Anna; Robowski, Piotr; Sitek, Emilia J.; Honczarenko, Krystyna; Gorzkowska, Agnieszka; Budrewićz, Sławomir; Mak, Monika; Jarosz, Monika; Gołąb-Janowska, Monika; Koziorowska-Gawron, Ewa; Droździk, Marek; Sławek, Jarosław

doi:10.1097/fpc.0b013e32835693f7

Cited by 63 publications

(54 citation statements)

References 50 publications

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“…In contrast, the Honolulu-Asia Aging Study cohort and case-control studies from three regions in China (N > 6,000) found no relationship between folate or vitamin B 12 intake or status and risk for Parkinson's disease (53,113,114). However, a recent meta-analysis of 14 studies found that elevated plasma Hcy was an independent risk factor for Parkinson's disease (96,115,116).…”

Section: Folatementioning

confidence: 93%

“…Hyperhomocysteinemia is related to cognitive impairment in Parkinson's disease patients (115). Lower folate and vitamin B 12 levels and higher Hcy levels were found in a meta-analysis of 15 studies of Parkinson's disease patients with cognitive dysfunction (115). Further, as Parkinson's disease progressed levels of vitamin B 12 decreased, and low B 12 was associated with greater disease severity (113,116).…”

Section: Vitamin B 12mentioning

confidence: 99%

Section: Vitamin B 12mentioning

confidence: 99%

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Cereal Foods World

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Section: Folatementioning

confidence: 93%

Section: Vitamin B 12mentioning

confidence: 99%

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2017

Cereal Foods World

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“…A more recent study performed in Indian subjects failed to find association of the RFC-1 80G>A polymorphism with risk of AD or vascular dementia, and no association of the polymorphism with serum folate levels was detected [21]. Moreover, others failed to observe association of rs1051266 with cognitive status, folate, and hcy levels in Caucasian Parkinson's disease (PD) patients [22]. …”

Section: Introductionmentioning

confidence: 99%

A Pilot Study Evaluating the Contribution ofSLC19A1(RFC-1) 80G>A Polymorphism to Alzheimer’s Disease in Italian Caucasians

Coppedè

Tannorella

Tognoni³

et al. 2014

BioMed Research International

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Alzheimer's disease (AD) is the most common neurodegenerative disorder and the primary form of dementia in the elderly. Polymorphisms of genes involved in folate metabolism have been frequently suggested as risk factors for sporadic AD. A common c.80G>A polymorphism (rs1051266) in the gene coding for the reduced folate carrier (SLC19A1 gene, commonly known as RFC-1 gene) was investigated as AD risk factor in Asian populations, yielding conflicting results. We screened a Caucasian population of Italian origin composed of 192 sporadic AD patients and 186 healthy matched controls, for the presence of the RFC-1 c.80G>A polymorphism, and searched for correlation with circulating levels of folate, homocysteine, and vitamin B12. No difference in the distribution of allele and genotype frequencies was observed between AD patients and controls. No correlation was observed among the genotypes generated by the RFC-1 c.80G>A polymorphism and circulating levels of folate, homocysteine, and vitamin B12 either in the whole cohort of subjects or after stratification into clinical subtypes. Present results do not support a role for the RFC-1 c.80G>A polymorphism as independent risk factor for sporadic AD in Italian Caucasians.

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“…It has been well established that elevated serum homocysteine level, namely, hyperhomocysteinemia (hHcys), is associated with a wide range of diseases and pathologic processes, including neurologic (Ravaglia et al, 2005;Białecka et al, 2012;Perła-Kaján and Jakubowski, 2012), cardiovascular (Cavalca et al, 2001;Białecka et al, 2012) and kidney (Wu et al, 2012) disease, osteoporosis (McLean et al, 2004), and complications of aging (Yu et al, 2012). With respect to glomerulosclerosis and consequent end-stage renal disease (ESRD), a large body of evidence supports a pathogenic role of hHcys via its effects on extracellular matrix accumulation, mesangial expansion, podocyte injury, local oxidative stress, and inflammation (Yi et al, 2007;Zhang et al, 2010;Li et al, 2013).…”

Section: Introductionmentioning

confidence: 99%

Protective Action of Anandamide and Its COX-2 Metabolite against L-Homocysteine-Induced NLRP3 Inflammasome Activation and Injury in Podocytes

Xia

Abais

et al. 2016

Journal of Pharmacology and Experimental Therapeutics

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Recent studies have demonstrated that L-homocysteine (Hcys)-induced podocyte injury leading to glomerular damage or sclerosis is attributable to the activation of the nucleotidebinding oligomerization domain-like receptor containing pyrin domain 3 (NLRP3) inflammasome. Given the demonstrated antiinflammatory effects of endocannabinoids, the present study was designed to test whether anandamide (AEA) or its metabolites diminish NLRP3 inflammasome activation and prevent podocyte injury and associated glomerular damage during hyperhomocysteinemia (hHcys). AEA (100 mM) inhibited Hcysinduced NLRP3 inflammasome activation in cultured podocytes, as indicated by elevated caspase-1 activity and interleukin-1b levels, and attenuated podocyte dysfunction, as shown by reduced vascular endothelial growth factor production. These effects of AEA were inhibited by the cyclooxygenase-2 (COX-2) inhibitor celecoxib (CEL). In mice in vivo, AEA treatment attenuated glomerular NLRP3 inflammasome activation induced by hHcys accompanying a folate-free diet, on the basis of inhibition of hHcys-induced colocalization of NLRP3 molecules and increased interleukin-1b levels in glomeruli. Correspondingly, AEA prevented hHcys-induced proteinuria, albuminuria, and glomerular damage observed microscopically. Hcys-and AEA-induced effects were absent in NLRP3-knockout mice. These beneficial effects of AEA against hHcys-induced NLRP3 inflammasome activation and glomerular injury were not observed in mice cotreated with CEL. We further demonstrated that prostaglandin E2-ethanolamide (PGE2-EA), a COX-2 product of AEA, at 10 mM had a similar inhibitory effect to that of 100 mM AEA on Hcys-induced NLRP3 inflammasome formation and activation in cultured podocytes. From these results, we conclude that AEA has anti-inflammatory properties, protecting podocytes from Hcys-induced injury by inhibition of NLRP3 inflammasome activation through its COX-2 metabolite, PGE2-EA.

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Association of COMT, MTHFR, and SLC19A1(RFC-1) polymorphisms with homocysteine blood levels and cognitive impairment in Parkinson’s disease

Cited by 63 publications

References 50 publications

Full Issue PDF

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A Pilot Study Evaluating the Contribution ofSLC19A1(RFC-1) 80G>A Polymorphism to Alzheimer’s Disease in Italian Caucasians

Protective Action of Anandamide and Its COX-2 Metabolite against L-Homocysteine-Induced NLRP3 Inflammasome Activation and Injury in Podocytes

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