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Full-Text Articles in Medicine and Health Sciences

Dna Methylation Of The Clusterin Promoter: Associations With Alzheimer’S Disease Risk And Related Phenotypes, Madeline Peretti Jan 2019

Dna Methylation Of The Clusterin Promoter: Associations With Alzheimer’S Disease Risk And Related Phenotypes, Madeline Peretti

Theses: Doctorates and Masters

Background

In 2017 approximately 50 million people worldwide were living with dementia. With Alzheimer’s disease (AD), accounting for 50-70% of dementia cases making this debilitating disease, with no current effective prevention, treatment or cure, a critical healthcare concern. Genome wide association studies (GWAS) have identified a number of risk genes for late onset AD (LOAD); Apolipoprotein E (APOE), a gene involved in the cholesterol/lipid pathway is considered the gene with the greatest risk. The third most associated AD risk gene is Clusterin (CLU), is also involved in the cholesterol/lipid pathway. CLU has been implicated in both …


Genetic Determinants Of Rates Of Cognitive Decline In Preclinical Alzheimer’S Disease, Tenielle L. S. Porter Jan 2018

Genetic Determinants Of Rates Of Cognitive Decline In Preclinical Alzheimer’S Disease, Tenielle L. S. Porter

Theses: Doctorates and Masters

In 2015 the number of people worldwide living with Dementia was 46.8 million, with approximately 50-75% of these cases being clinically defined as Alzheimer’s disease (AD). Despite extensive efforts, clinical trials have so far failed to yield a treatment that successfully addresses the underlying cause of AD. This lack of treatment has been suggested, in part, to be a result of late stage of intervention in current clinical trial design. For this reason, greater focus has been placed on preclinical trials and in turn both the identification of individuals at-risk for AD and, amongst these, those that are expected to …


Impact Of Aquaporin (Aqp1 And Aqp4) Genetic Variation On The Relationship Between Sleep Quality And Alzheimer’S Disease Pathological Hallmarks, Gavin Noel Mazzucchelli Jan 2017

Impact Of Aquaporin (Aqp1 And Aqp4) Genetic Variation On The Relationship Between Sleep Quality And Alzheimer’S Disease Pathological Hallmarks, Gavin Noel Mazzucchelli

Theses : Honours

Alzheimer’s disease (AD) is widely recognised as a growing global health issue with far ranging social and economic implications. The accumulation of Amyloid-β (Aβ) in the brain is a pathological hallmark of AD. A recently discovered lymphatic–like system in the central nervous system (termed the glymphatic system) has been postulated to be both implicit in the clearance of Aβ from the brain, and most effective during sleep—making sleep an important consideration in the investigation of AD. Central nervous system expressed water channel proteins, namely Aquaporin 1 and 4, have been suggested to play a pivotal role in glymphatic function and …