PICALM gene methylation in blood of Alzheimer's disease patients is associated with cognitive decline

Roberta Mercorio, Laura Pergoli, Daniela Galimberti, Chiara Favero, Michele Carugno, Elisabetta Dalla Valle, Francesco Barretta, Francesca Cortini, Elio Scarpini, Valentina Bollati Valentina, Angela Cecilia Pesatori

Research output: Contribution to journalArticlepeer-review


Epigenetic mechanisms might be involved in Alzheimer's disease (AD). Genetic polymorphisms in several genes, including APOE (Apolipoprotein E), PSEN1 (Presenilin 1), CR1 (Complement receptor 1), and PICALM (Phosphatidylinositol binding clathrin assembly protein), have been associated to an increased AD risk. However, data regarding methylation of these specific genes are lacking. We evaluated DNA methylation measured by quantitative bisulfite-PCR pyrosequencing in 43 AD patients and 38 healthy subjects (HS). In a multivariate age- and gender-adjusted model, PICALM methylation was decreased in AD compared to HS (mean = 3.54 and 4.63, respectively, p = 0.007). In AD, PICALM methylation level was also positively associated to Mini-Mental Scale Examination (MMSE) score (percent change 3.48%, p = 0.008). Moreover, a negative association between PICALM methylation and age was observed only in HS (percent change - 2.29%, p = 0.002). In conclusion, our data suggest a possible role of PICALM methylation in AD, particularly related to cognitive function. Given the small study sample and the associative nature of our study, further prospective investigations are required to assess the dynamics of DNA methylation in the early stages of AD development.

Original languageEnglish
Pages (from-to)283-292
Number of pages10
JournalJournal of Alzheimer's Disease
Issue number1
Publication statusPublished - Jan 1 2018


  • Alzheimer's disease
  • epigenetics
  • methylation
  • Mini-Mental State Examination

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Psychology
  • Geriatrics and Gerontology
  • Psychiatry and Mental health


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