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Acta Neuropathol ; 147(1): 29, 2024 02 03.
Artículo en Inglés | MEDLINE | ID: mdl-38308693

RESUMEN

The aggregation, mislocalization, and phosphorylation of TDP-43 are pathologic hallmarks of several neurodegenerative diseases and provide a defining criterion for the neuropathologic diagnosis of Limbic-predominant Age-related TDP-43 Encephalopathy (LATE). LATE neuropathologic changes (LATE-NC) are often comorbid with other neurodegenerative pathologies including Alzheimer's disease neuropathologic changes (ADNC). We examined whether TDP-43 regulated cryptic exons accumulate in the hippocampus of neuropathologically confirmed LATE-NC cases. We found that several cryptic RNAs are robustly expressed in LATE-NC cases with or without comorbid ADNC and correlate with pTDP-43 abundance; however, the accumulation of cryptic RNAs is more robust in LATE-NC with comorbid ADNC. Additionally, cryptic RNAs can robustly distinguish LATE-NC from healthy controls and AD cases. These findings expand our current understanding and provide novel potential biomarkers for LATE pathogenesis.


Asunto(s)
Enfermedad de Alzheimer , Demencia , Proteinopatías TDP-43 , Humanos , Encéfalo/patología , Proteinopatías TDP-43/patología , Enfermedad de Alzheimer/genética , Enfermedad de Alzheimer/patología , Envejecimiento/genética , Envejecimiento/patología , Proteínas de Unión al ADN/metabolismo , Exones
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