Publication

Methods of diagnosis alzheimer's disease

Johannes Gräff, Jose Vicente Sanchez Mut
2018
Patents

Résumé

A method for the diagnosis or prognosis of Alzheimer's disease (AD), includes the steps of placing a sample isolated from a person suspected of having AD onto a substrate labeling the sample to identify at least one epigenetic marker and/or genetic variation and determining a state of AD. One of the epigenetic markers is PM20D1 promoter DNA methylation and/or one of the genetic variation is in at least one of PM20D1 mQTL-associated SNPs. PM20D1 is used as a therapeutic target and viral vectors encoding PM20D1 are used in the therapy of AD. Moreover, a kit for diagnosing AD includes reagents for detecting the SNPs rs708727, rs947211, rs708730, rs708724 or rs823130.

Source officielle

https://infoscience.epfl.ch/entities/publication/0e52e255-8379-49d7-88d4-189637c39891

À propos de ce résultat

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Johannes Gräff, Jose Vicente Sanchez Mut
2018
Patents

Résumé

Source officielle

https://infoscience.epfl.ch/entities/publication/0e52e255-8379-49d7-88d4-189637c39891

À propos de ce résultat

Concepts associés (19)

Genetic variation

Genetic variation is the difference in DNA among individuals or the differences between populations among the same species. The multiple sources of genetic variation include mutation and genetic recombination. Mutations are the ultimate sources of genetic variation, but other mechanisms, such as genetic drift, contribute to it, as well. Genetic variation can be identified at many levels. Identifying genetic variation is possible from observations of phenotypic variation in either quantitative traits (traits that vary continuously and are coded for by many genes (e.

Human genetic variation

Human genetic variation is the genetic differences in and among populations. There may be multiple variants of any given gene in the human population (alleles), a situation called polymorphism. No two humans are genetically identical. Even monozygotic twins (who develop from one zygote) have infrequent genetic differences due to mutations occurring during development and gene copy-number variation. Differences between individuals, even closely related individuals, are the key to techniques such as genetic fingerprinting.

Diversité génétique

vignette|Dans la seconde édition de son la publiée en 1845, Darwin décrit l'extrême diversité des becs des pinsons des Galápagos, reliée au régime alimentaire de ces oiseaux, et émet l'hypothèse qu'il s'agit de différentes variétés d'une même espèce de pinsons, une espèce souche venue du continent. La diversité génétique désigne le degré de variétés des gènes au sein d'une même espèce, correspondant au nombre total de caractéristiques génétiques dans la constitution génétique de l'espèce (voire de la sous-espèce).

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Publications associées (31)

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Cell fate progression of pluripotent progenitors is strictly regulated, resulting in high human cell diversity. Epigenetic modifications also orchestrate cell fate restriction. Unveiling the epigenetic mechanisms underlying human cell diversity has been di ...

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Methods of diagnosis alzheimer's disease

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Meeting our Makers: Uncovering the cis-regulatory activity of transposable elements using statistical learning

Single-cell epigenomic reconstruction of developmental trajectories from pluripotency in human neural organoid systems

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Meeting our Makers: Uncovering the cis-regulatory activity of transposable elements using statistical learning

Single-cell epigenomic reconstruction of developmental trajectories from pluripotency in human neural organoid systems

Two-particle Bose-Einstein correlations and their Lévy parameters in PbPb collisions at √sNN=5.02 TeV