Genetics and Pathogenesis of Alzheimer’s disease

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Guest Editor
Dr. Ornit Chiba-Falek
Department of Neurology, Duke University, Durham, NC, USA

Manuscript Topics
Alzheimer’s disease (AD), especially late-onset AD (LOAD) is a complex multifactorial neurodegenerative disease and a leading cause of dementia among elderly people. APOE was the first risk gene identified and has remained the strongest established susceptibility gene for LOAD. Although it has been clear that APOE-e4 plays an important role in the genetics of LOAD risk and age at onset, it has been agreeable that additional genes contribute to the genetic variance of LOAD. This has led to efforts towards finding the ‘missing heritability’. Since 2009, large genome-wide association studies (GWASs) have led to the identification of >20 additional genes/loci for LOAD. Those findings explain only a small fraction of the estimated genetic variance. Recently, comprehensive resequencing efforts (whole-genome and whole-exome sequencing) in order to identify rare and low-frequency functional variants have been launched. These ongoing efforts have led to the discoveries of LOAD mutations in two novel genes and also showed a role for the known familial AD-gene, APP, in LOAD. Furthermore, gene expression studies demonstrated that some of the LOAD-risk alleles are linked with changes in the expression levels of their nearby gene/s.

This special issue invites articles that address new insights in LOAD genetics including, innovative initiatives towards revealing the ‘missing heritability’, genetic factors of the disease endophenotypes, identification of functional variants and the underlying molecular mechanisms of LOAD.

Paper submission
All manuscripts will be peer-reviewed before their acceptance for publication.
The deadline for manuscript submission is 15 January 2016.

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Joanna L. Richens, Jonathan P. Bramble, Hannah L. Spencer, Fiona Cantlay, Molly Butler, Paul O’Shea
AIMS Genetics, 2016, 3(1): 25-48. doi: 10.3934/genet.2016.1.25
+ Abstract     + HTML     + PDF(1064 KB)
Seoyoung Yoon, Yong-Ku Kim
AIMS Genetics, 2015, 2(3): 230-249. doi: 10.3934/genet.2015.3.230
+ Abstract     + HTML     + PDF(955 KB)
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