Genomics of Dementia:APOE- and CYP2D6-Related Pharmacogenetics
News Apr 12, 2012
Dementia is a major problem of health in developed societies. Alzheimer’s disease (AD), vascular dementia, and mixed dementia account for over 90% of the most prevalent forms of dementia. Both genetic and environmental factors are determinant for the phenotypic expression of dementia. AD is a complex disorder in which many different gene clusters may be involved. Most genes screened to date belong to different proteomic and metabolomic pathways potentially affecting AD pathogenesis. The ε4 variant of the APOE gene seems to be a major risk factor for both degenerative and vascular dementia. Metabolic factors, cerebrovascular disorders, and epigenetic phenomena also contribute to neurodegeneration. Five categories of genes are mainly involved in pharmacogenomics: genes associated with disease pathogenesis, genes associated with the mechanism of action of a particular drug, genes associated with phase I and phase II metabolic reactions, genes associated with transporters, and pleiotropic genes and/or genes associated with concomitant pathologies. The APOE and CYP2D6 genes have been extensively studied in AD. The therapeutic response to conventional drugs in patients with AD is genotype specific, with CYP2D6-PMs, CYP2D6-UMs, and APOE-4/4 carriers acting as the worst responders. APOE and CYP2D6 may cooperate, as pleiotropic genes, in the metabolism of drugs and hepatic function. The introduction of pharmacogenetic procedures into AD pharmacological treatment may help to optimize therapeutics.
This paper was published in the International Journal of Altzheimer's Disease and is free to access online.
Analytical Tool Predicts Disease-Causing GenesNews
Predicting genes that can cause disease due to the production of truncated or altered proteins that take on a new or different function, rather than those that lose their function, is now possible thanks to an international team of researchers that has developed a new analytical tool to effectively and efficiently predict such candidate genes.
Single Gene Change in Gut Bacteria Alters Host MetabolismNews
Scientists have found that deleting a single gene in a particular strain of gut bacteria causes changes in metabolism and reduced weight gain in mice. The research provides an important step towards understanding how the microbiome – the bacteria that live in our body – affects metabolism.READ MORE
Gotta Sample 'Em All! Underwater Pokéball Captures Ocean LifeNews
A new device developed by Wyss Institute reseachers safely traps delicate sea creatures inside a folding polyhedral enclosure and lets them go without harm using a novel, origami-inspired design. The ultimate aim is to allow the sea creatures to be (gently) analyzed in high detail.READ MORE
International Conference on Neurooncology and Neurosurgery
Sep 17 - Sep 18, 2018