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Swiss group for Interstitial and Orphan Lung Diseases

CNP SEMINAR : Dr Jose V. Sanchez Mut, PhD

Dans la série de CNP SEMINARS la prochaine conférence donnée par Dr Sanchez Mut est intitulée "PM20D1 quantitative trait locus is associated with Alzheimer's disease"

Conférence | Salle Kaufmann, Les Cèdres, Hopital de Cery, Prilly | 18.05.2018 à 11h00
Publié par Viveka Sari

Centre de Neurosciences Psychiatriques



Friday, May 18, 2018, 11:00

“PM20D1 quantitative trait locus is associated with Alzheimer’s disease”

Dr. Jose V. Sanchez Mut, PhD,

Postdoctoral Researcher

Laboratory of Neuroepigenetics, Brain Mind Institute (BMI), EPFL, Lausanne


Invited by Kim Do (

Salle Kaufmann, Hôpital Psychiatrique de Cery

Site de Cery,  Prilly-Lausanne


The chances to develop Alzheimer’s disease (AD) result from a combination of genetic and non-genetic risk factors, the latter likely mediated by epigenetic mechanisms. In the past, genome-wide association studies (GWAS) have identified an important number of risk loci associated with AD pathology, but a causal relationship thereof remains difficult to establish. In contrast, locus-specific or epigenome-wide association studies (EWAS) have revealed site-specific epigenetic alterations and thereby provide mechanistic insights for a particular risk gene, but often lack the statistical power of GWAS. Combining both approaches, we have found that PM20D1 is a methylation/expression quantitative trait locus (mQTL/eQTL) coupled to an AD-risk associated haplotype, which displays enhancer-like characteristics and contacts the PM20D1 promoter via a haplotype-dependent, CTCF-mediated chromatin loop. Furthermore, PM20D1 is increased following AD-related neurotoxic insults, at symptomatic stages in the APP/PS1 mouse model of AD and in human AD patients, who are carriers of the non-risk haplotype. Importantly, genetically increasing and decreasing the expression of PM20D1 reduces and aggravates AD-related pathologies, respectively. These findings suggest that in a particular genetic background, PM20D1 contributes to neuroprotection against AD.

Selected publications:

  1. Sanchez-Mut JV, Heyn H, Silva BA, Dixsaut L, Garcia-Esparcia P, Vidal E, Sayols S, Glauser L, Monteagudo-Sánchez A, Perez-Tur J, Ferrer I, Monk D, Schneider B, Esteller M, Gräff J. PM20D1 quantitative trait locus is associated with Alzheimer’s disease. Nat Med. 2018. (in press).
  2. Sanchez-Mut JV, Gräff J. Epigenetic Alterations in Alzheimer's disease. Front. Behav. Neurosci, 2015: 9 (347).

Document(s) annexe(s)

Salle Kaufmann
Flyer Jose V. Sanchez Mut

Dernière mise à jour le 08.03.2018 09:29