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- W2897900526 abstract "We identified a rare, nonsynonymous variant in the tetratricopeptide repeat domain 3 (TTC3) gene that segregated in all 11 Alzheimer disease (AD) individuals in a non-Hispanic white late onset Alzheimer disease (LOAD) family (mean AAO=75.7 years, Kohli, et al, 2016). This missense alteration, rs377155188 (p.S1038C), is predicted to be deleterious by five in silico algorithms and extremely rare in the European (non-Finnish) exomes in the ExAC database (1.96x10−5). Studies have reported that cortical TTC3 expression is reduced in LOAD patients and negatively correlated with the AD neuropathology. To understand the mechanism by which the TTC3 alteration may be acting to contribute to LOAD risk, induced pluripotent stem cells (iPSC) lines were developed to examine cellular consequences in neuronal cells, which can otherwise only be collected postmortem. Peripheral blood mononuclear cells (PBMCs) were extracted from the whole blood of three LOAD individuals bearing the p.S1038C change, as well as three age and ethnically matched control individuals. iPSC reprogramming was performed using Sendai virus. Each iPSC line generated was validated for pluripotency through immunocytochemical staining and shown to be negative for any large-scale chromosomal abnormalities via karyotyping. These iPSC lines are being differentiated into cortical neurons by viral transduction of Neurogenin 2 to promote rapid maturation. There is evidence that modulation of TTC3 affects neurite growth (Berto, et al, 2007); therefore, morphological measures of axon and synapse formation will be assessed in differentiating neuronal cultures using live cell imaging. Alzheimer-specific phenotypes such as the levels of secreted beta amyloid and intercellular whole and phosphorylated tau will also be measured. Utilizing patient-specific iPSC lines carrying a segregating alteration in TTC3 will enable us to determine how this genetic alteration which may contribute to AD specific cellular phenotypes and, on a broader scale, LOAD risk." @default.
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- W2897900526 date "2018-07-01" @default.
- W2897900526 modified "2023-10-16" @default.
- W2897900526 title "P2‐114: A STEM CELL MODEL OF A RARE, SEGREGATING <i>TTC3</i> MUTATION" @default.
- W2897900526 doi "https://doi.org/10.1016/j.jalz.2018.06.800" @default.
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