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Isaac Kohane @zakkohane
, 5 tweets, 5 min read Read on Twitter
Why is this paper in @nature… a surprising and exciting discovery about #Alzheimers? It's not just that they found new variants Alzheimer’s disease-related gene APP. CC @alzheimerssoc
It's not just that they realized that the new variants were being coded by DNA with unusual intragenic splices and not because of errors in splicing and that these variants found in sporadic #Alzheimers were similar to those found in Familial #Alzheimers. CC @alzassociation
It's not just that they realized that the DNA was not germline but genomic cDNA (gencDNA) & was most likely generated by reverse transcriptase, the same enzyme that lets #HIV take over human cells leading to #AIDS @ALZHEIMERSread
But recalling #AIDS patients > 65 on #antiretrovirals have remarkably low prevalence of #Alzheimers they showed _in_vitro_ that #AZT prevents the formation of the pathological gencDNA that results in the abnormal APP protein. A whole new therapeutic opportunity CC @DShaywitz
Nice summarized here HT @IAmSamFin
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