Publications by authors named "B V Hooli"
Article Synopsis
- The study investigates the genetic factors contributing to Alzheimer's disease by analyzing tau deposition through a genome-wide association study involving 3,046 participants.
- It identifies the CYP1B1-RMDN2 locus as significantly linked to tau levels, with the variant rs2113389 explaining 4.3% of tau variation, while also correlating with cognitive decline.
- Findings suggest a connection between CYP1B1 expression and tau deposition, offering potential new avenues for Alzheimer's treatment and understanding its genetic basis.
Article Synopsis
- - The study investigates the genetic factors behind neuropsychiatric symptoms common in Alzheimer's disease, specifically psychosis (AD+P) and affective disturbances like depression and anxiety (AD+A).
- - Using a large sample of nearly 10,000 Alzheimer's participants, researchers found genetic correlations between AD+P and AD+A, but these two conditions also showed distinct genetic profiles when compared to psychiatric disorders in non-AD individuals.
- - The findings highlight the need for integrating genetic data to develop better treatments, as both psychosis and affective symptoms in Alzheimer's have shared and differing genetic associations.
Determining the genetic architecture of Alzheimer's disease (AD) pathologies can enhance mechanistic understanding and inform precision medicine strategies. Here, we performed a genome-wide association study of cortical tau quantified by positron emission tomography in 3,136 participants from 12 independent studies. The locus was associated with tau deposition.
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- - Psychotic symptoms, like delusions and hallucinations, impact about 50% of Alzheimer's disease (AD) patients, leading to worse outcomes, increased cognitive impairment, and more depressive symptoms compared to those without these symptoms.
- - A large genome-wide meta-analysis of over 12,000 AD patients revealed significant genetic variations linked to psychosis in AD, identifying two critical genetic loci and emphasizing the role of the APOE gene in risk factors.
- - The study found genetic correlations between AD with psychosis and factors like cognitive attainment and bipolar disorder, suggesting complex genetic interactions that affect susceptibility to both AD and associated psychotic symptoms.
Expansion of CAG trinucleotide repeats in ATXN1 causes spinocerebellar ataxia type 1 (SCA1), a neurodegenerative disease that impairs coordination and cognition. While ATXN1 is associated with increased Alzheimer's disease (AD) risk, CAG repeat number in AD patients is not changed. Here, we investigated the consequences of ataxin-1 loss of function and discovered that knockout of Atxn1 reduced CIC-ETV4/5-mediated inhibition of Bace1 transcription, leading to increased BACE1 levels and enhanced amyloidogenic cleavage of APP, selectively in AD-vulnerable brain regions.
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