The MTHFR C677T polymorphism modifies age at onset in Parkinson's disease

Annamaria Vallelunga, Valentina Pegoraro, Manuela Pilleri, Roberta Biundo, Angela De Iuliis, Mauro Marchetti, Silvia Facchini, Patrizia Formento Dojot, Angelo Antonini

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)73-77
Number of pages5
JournalNeurological Sciences
Issue number1
Publication statusPublished - Jan 2014


  • Age at onset of PD
  • Brain vascular load
  • Homocysteine
  • MTHFR A1298C
  • MTHFR C677T
  • Parkinson disease

ASJC Scopus subject areas

  • Clinical Neurology
  • Psychiatry and Mental health
  • Dermatology


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