Review: Genetics of Alzheimer’s Disease: Recent Advances

The featured article is ‘Genetics of Alzheimer’s Disease: Recent Advances’ by Dimitrios Avramopoulos and which is freely available here. This is a brief review article with some helpful information about the author who has been working in gene-related research in Alzheimer’s Disease since 2001. This is also a very informal review in which Avramopoulos gives us an overview of the history of the field, key discoveries and important work that is currently underway. The main genes which have been associated with Alzheimer’s Disease and are discussed within the article are the APOE4 gene, APP, PSEN1 and PSEN2. Avramopoulos tells us that there are a few important genes as above and then a number of other genes with a smaller contribution. Furthermore we are given an overview of the technology that is used in the identification of and discussion of relevant genes including the Alzgene database (located at the excellent Alzheimer Research Forum here), the Genome Wide Association Studies and the database of Single Nucleotide Polymorphisms. In January 2009 for instance, Avroupolos tells us that there were 557 candidate genes and 1852 polymorphisms! Particularly interesting was the strong association with the PCDH11X gene on the X chromosome and the impressive Genome Wide Association Studies in which hundreds of thousands of SNP’s were examined for a relationship with Alzheimer’s Disease. Avramopoulos then discusses the impact that the gene discoveries have had on treatment and perhaps the most relevant is the association of cholesterol homeostasis with APOE4 and the possible benefits of statins. This is a brief but helpful overview of the fast developing study of the genetics of Alzheimer’s Disease.


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The comments made here represent the opinions of the author and do not represent the profession or any body/organisation. The comments made here are not meant as a source of medical advice and those seeking medical advice are advised to consult with their own doctor. The author is not responsible for the contents of any external sites that are linked to in this blog.


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