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.
PICALM gene methylation in blood of Alzheimer's disease patients is associated with cognitive decline / R. Mercorio, L. Pergoli, D. Galimberti, C. Favero, M. Carugno, E. Dalla Valle, F. Barretta, F. Cortini, E. Scarpini, V. Bollati, A.C. Pesatori. - In: JOURNAL OF ALZHEIMER'S DISEASE. - ISSN 1387-2877. - 65:1(2018), pp. 283-292.
|Titolo:||PICALM gene methylation in blood of Alzheimer's disease patients is associated with cognitive decline|
PESATORI, ANGELA CECILIA (Corresponding)
|Parole Chiave:||Alzheimer's disease; epigenetics; methylation; Mini-Mental State Examination; PICALM; Neuroscience (all); Clinical Psychology; Geriatrics and Gerontology; Psychiatry and Mental Health|
|Settore Scientifico Disciplinare:||Settore MED/44 - Medicina del Lavoro|
|Data di pubblicazione:||2018|
|Digital Object Identifier (DOI):||http://dx.doi.org/10.3233/JAD-180242|
|Appare nelle tipologie:||01 - Articolo su periodico|
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