Model organisms such as are powerful tools to study the genetic basis of sleep. Previously, we identified the genes and using selective breeding for long and short sleep duration in an outbred population of . is a transcription factor that is part of the epidermal growth factor receptor signaling pathway, while is involved in proline and arginine metabolism. Conserved orthologs of these genes exist in mice, leading us to hypothesize that they would also impact sleep in a murine model. We generated mutations in the murine orthologs and using CRISPR in a C57BL/6N background and used video analysis to measure sleep in the mice. Both mutations affected sleep parameters, and the effects were observed predominantly in female mice, with males showing fewer differences from littermate controls. The study of natural populations in flies therefore leads to candidate genes with functional conservation on sleep in mammals.
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http://dx.doi.org/10.1093/sleepadvances/zpae092 | DOI Listing |
Alzheimers Dement
December 2024
GloNeuro Academy, Noida, Uttar Pradesh, India.
Background: Obesity is caused by the buildup of excess body fat, which upsets homeostasis. Genetic, epigenetic, and behavioural variables all have a role in the pathophysiology of obesity. In turn, obesity throws off the sleep cycle, leading to sleep problems.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Cleveland Clinic, Cleveland, OH, USA.
Background: Alzheimer's Disease (AD) risk variants APOE4 and TREM2-R47H have been shown to impact glial cell functions and transcriptional profiles. We hypothesize that TREM2-APOE may have synergistic effects in driving pathogenesis and disease progression of AD in a cell type-specific manner.
Methods: We investigated cell-type specific transcriptional changes associated with APOE4- and TREM2-R47H-carrier status.
Alzheimers Dement
December 2024
UK Dementia Research Institute at the University of Edinburgh, Edinburgh, Scotland, United Kingdom.
Background: Alzheimer's disease (AD) is the primary cause of dementia, characterized by early amyloid beta accumulation, subsequent tau pathology, and eventually synaptic and neuronal loss. Sleep disturbances, a clinical phenotype in AD, are linked to amyloid beta and impaired protein clearance. However, the influence of tau pathology on sleep is less explored.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Cleveland Clinic Lou Ruvo Center for Brain Health, Las Vegas, NV, USA.
Background: Women are at increased risk for Alzheimer's disease (AD) compared to men. Given research supporting up to 40% of AD cases as preventable with lifestyle modification, midlife represents a critical time of life to intervene on dementia risks; however, little research has examined women-specific presentation of risk at midlife, or how menopause staging may impact risk presentation. The aim of this study was to assess dementia risk profiles in women at risk for AD due to family history, including self-reported and lab-based modifiable risks, and to determine the role of menopause on risk presentation.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
University of Kentucky, Lexington, KY, USA.
Background: Alzheimer's disease is defined by the pathological aggregation of amyloid-beta and hyperphosphorylated tau. AD patients often exhibit other symptoms like metabolic and sleep dysfunction. Currently, it is unclear if impairments are a cause or consequence of Aβ or tau aggregation.
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