The MTHFR C677T polymorphism modifies age at onset in Parkinson's disease.
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| Title: | The MTHFR C677T polymorphism modifies age at onset in Parkinson's disease. |
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| Authors: | Vallelunga, Annamaria, Pegoraro, Valentina, Pilleri, Manuela, Biundo, Roberta, Iuliis, Angela, Marchetti, Mauro, Facchini, Silvia, Formento Dojot, Patrizia, Antonini, Angelo |
| Source: | Neurological Sciences. Jan2014, Vol. 35 Issue 1, p73-77. 5p. |
| Subjects: | Genetic polymorphisms, Age of onset, Hyperhomocysteinemia, Disease risk factors, Parkinson's disease, Genetic mutation, Methylenetetrahydrofolate reductase, Homocysteine, Homozygosity |
| Abstract: | Hyperhomocysteinemia is a risk factor for Parkinson's disease (PD) and may result from genetic mutations or/and environmental factors. 5,10-methylenetetrahydrofolate reductase (MTHFR) is a folate-dependent enzyme that catalyzed remethylation of homocysteine (Hcy) and the MTHFR C677T polymorphism makes the MTHFR enzyme thermolabile causing hyperhomocysteinemia. In this study we analyzed whether two functional polymorphisms of MTHFR gene, A1298C and C677T, affect age of onset in PD. We enrolled 120 patients with sporadic PD. Patients were divided into three groups based on MTHFR C677T polymorphisms: (a) homozygotes wild type (CC) (b) heterozygotes (CT) and (c) homozygotes carriers of mutation (TT). MTHFR SNPs were analyzed using High-Resolution Melt analysis and ANOVA was performed to assess whether polymorphisms of MTHFR gene could influence age of onset. The MTHFR A1298C polymorphism had no effect on PD age at onset ( p = 1.0) while there was a significant association with MTHFR C677T ( p = 0.019 Bonferroni-adjusted post hoc) showing an earlier onset in CC as compared with TT. ( p = 0.024). No differences were found for vascular load assessed with magnetic resonance imaging, pharmacological therapy and cognitive state for two MTHFR SNPs. Our results suggest a possible association of MTHFR C677T with age at onset of PD and may have important implications regarding the role of MTHFR. [ABSTRACT FROM AUTHOR] |
| Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) | |
| Database: | Psychology and Behavioral Sciences Collection |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: pbh DbLabel: Psychology and Behavioral Sciences Collection An: 93448429 AccessLevel: 6 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: The MTHFR C677T polymorphism modifies age at onset in Parkinson's disease. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Vallelunga%2C+Annamaria%22">Vallelunga, Annamaria</searchLink><br /><searchLink fieldCode="AR" term="%22Pegoraro%2C+Valentina%22">Pegoraro, Valentina</searchLink><br /><searchLink fieldCode="AR" term="%22Pilleri%2C+Manuela%22">Pilleri, Manuela</searchLink><br /><searchLink fieldCode="AR" term="%22Biundo%2C+Roberta%22">Biundo, Roberta</searchLink><br /><searchLink fieldCode="AR" term="%22Iuliis%2C+Angela%22">Iuliis, Angela</searchLink><br /><searchLink fieldCode="AR" term="%22Marchetti%2C+Mauro%22">Marchetti, Mauro</searchLink><br /><searchLink fieldCode="AR" term="%22Facchini%2C+Silvia%22">Facchini, Silvia</searchLink><br /><searchLink fieldCode="AR" term="%22Formento+Dojot%2C+Patrizia%22">Formento Dojot, Patrizia</searchLink><br /><searchLink fieldCode="AR" term="%22Antonini%2C+Angelo%22">Antonini, Angelo</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Neurological+Sciences%22">Neurological Sciences</searchLink>. Jan2014, Vol. 35 Issue 1, p73-77. 5p. – Name: Subject Label: Subjects Group: Su Data: <searchLink fieldCode="DE" term="%22Genetic+polymorphisms%22">Genetic polymorphisms</searchLink><br /><searchLink fieldCode="DE" term="%22Age+of+onset%22">Age of onset</searchLink><br /><searchLink fieldCode="DE" term="%22Hyperhomocysteinemia%22">Hyperhomocysteinemia</searchLink><br /><searchLink fieldCode="DE" term="%22Disease+risk+factors%22">Disease risk factors</searchLink><br /><searchLink fieldCode="DE" term="%22Parkinson's+disease%22">Parkinson's disease</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+mutation%22">Genetic mutation</searchLink><br /><searchLink fieldCode="DE" term="%22Methylenetetrahydrofolate+reductase%22">Methylenetetrahydrofolate reductase</searchLink><br /><searchLink fieldCode="DE" term="%22Homocysteine%22">Homocysteine</searchLink><br /><searchLink fieldCode="DE" term="%22Homozygosity%22">Homozygosity</searchLink> – Name: Abstract Label: Abstract Group: Ab Data: Hyperhomocysteinemia is a risk factor for Parkinson's disease (PD) and may result from genetic mutations or/and environmental factors. 5,10-methylenetetrahydrofolate reductase (MTHFR) is a folate-dependent enzyme that catalyzed remethylation of homocysteine (Hcy) and the MTHFR C677T polymorphism makes the MTHFR enzyme thermolabile causing hyperhomocysteinemia. In this study we analyzed whether two functional polymorphisms of MTHFR gene, A1298C and C677T, affect age of onset in PD. We enrolled 120 patients with sporadic PD. Patients were divided into three groups based on MTHFR C677T polymorphisms: (a) homozygotes wild type (CC) (b) heterozygotes (CT) and (c) homozygotes carriers of mutation (TT). MTHFR SNPs were analyzed using High-Resolution Melt analysis and ANOVA was performed to assess whether polymorphisms of MTHFR gene could influence age of onset. The MTHFR A1298C polymorphism had no effect on PD age at onset ( p = 1.0) while there was a significant association with MTHFR C677T ( p = 0.019 Bonferroni-adjusted post hoc) showing an earlier onset in CC as compared with TT. ( p = 0.024). No differences were found for vascular load assessed with magnetic resonance imaging, pharmacological therapy and cognitive state for two MTHFR SNPs. Our results suggest a possible association of MTHFR C677T with age at onset of PD and may have important implications regarding the role of MTHFR. [ABSTRACT FROM AUTHOR] – Name: AbstractSuppliedCopyright Label: Group: Ab Data: <i>Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.) |
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| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1007/s10072-013-1545-z Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 5 StartPage: 73 Subjects: – SubjectFull: Genetic polymorphisms Type: general – SubjectFull: Age of onset Type: general – SubjectFull: Hyperhomocysteinemia Type: general – SubjectFull: Disease risk factors Type: general – SubjectFull: Parkinson's disease Type: general – SubjectFull: Genetic mutation Type: general – SubjectFull: Methylenetetrahydrofolate reductase Type: general – SubjectFull: Homocysteine Type: general – SubjectFull: Homozygosity Type: general Titles: – TitleFull: The MTHFR C677T polymorphism modifies age at onset in Parkinson's disease. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Vallelunga, Annamaria – PersonEntity: Name: NameFull: Pegoraro, Valentina – PersonEntity: Name: NameFull: Pilleri, Manuela – PersonEntity: Name: NameFull: Biundo, Roberta – PersonEntity: Name: NameFull: Iuliis, Angela – PersonEntity: Name: NameFull: Marchetti, Mauro – PersonEntity: Name: NameFull: Facchini, Silvia – PersonEntity: Name: NameFull: Formento Dojot, Patrizia – PersonEntity: Name: NameFull: Antonini, Angelo IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 01 Text: Jan2014 Type: published Y: 2014 Identifiers: – Type: issn-print Value: 15901874 Numbering: – Type: volume Value: 35 – Type: issue Value: 1 Titles: – TitleFull: Neurological Sciences Type: main |
| ResultId | 1 |