Publications by authors named "E E Mufson"
Background/objectives: Down syndrome (DS) is the most common cause of early-onset Alzheimer's disease (AD). Dietary choline has been proposed as a modifiable factor to improve the cognitive and pathological outcomes of AD and DS, especially as many do not reach adequate daily intake levels of choline. While lower circulating choline levels correlate with worse pathological measures in AD patients, choline status and intake in DS is widely understudied.
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- Both Down syndrome (DS) and Alzheimer's disease (AD) show selective vulnerability in certain neuron populations, particularly affecting memory and executive functions through degeneration of pyramidal neurons (PNs).
- Research used RNA-sequencing to analyze PNs in the prefrontal cortex (specifically Brodmann area 9) in postmortem brains from individuals with DS and matched controls, revealing significant gene dysregulation that differs between two layers of neurons.
- Findings indicate that DS impacts gene regulation specifically in different neuron layers, with layer III showing more unique dysregulation relevant to early AD, suggesting potential pathways for understanding the relationship between DS and AD.
Article Synopsis
- * The study tested maternal choline supplementation (MCS) on a mouse model to see if it improves early endosome issues linked to these neurons.
- * Results showed MCS reduced early endosome numbers and sizes, improving their function, suggesting it could be an effective early intervention for DS and related disorders.
Article Synopsis
- - The study examined the gene expression differences in specific excitatory neurons from the brains of individuals with Down syndrome (DS) compared to controls to understand their roles in neurodegeneration and potential therapies for Alzheimer’s disease (AD).
- - More than 2,300 differentially expressed genes (DEGs) were identified in both layers of pyramidal neurons, including 100 genes from the extra chromosome 21, indicating a complex pattern of gene dysregulation beyond just trisomic genes.
- - Key genes like amyloid precursor protein (APP) and superoxide dismutase 1 (SOD1) were highlighted as important regulators of neuronal dysfunction, suggesting they could be targets for new treatments aimed at improving cognitive decline in DS
Article Synopsis
- Individuals with Down syndrome (DS) develop Alzheimer's disease (AD) pathology in midlife, particularly affecting CA1 neurons in the hippocampus, but the underlying mechanisms are not fully understood.
- This study compared pyramidal neurons (PNs) in an aged female DS/AD mouse model to control mice, focusing on how spatial positioning within the CA1 region impacts neuronal dysfunction.
- Results showed significant differences in gene expression based on the spatial location of neurons, indicating deeper CA1 neurons are more linked to cognitive functions compared to superficial ones, highlighting the role of spatial localization in neuronal vulnerability.