Genome editing in induced pluripotent stem cells rescues TAF1 levels in X-linked dystonia-parkinsonism

Movement Disorders : Official Journal of the Movement Disorder Society
Aleksandar RakovicChristine Klein

Abstract

The most likely genetic cause of X-linked dystonia-parkinsonism, a neurodegenerative movement disorder endemic to the Philippines, is a 2672-bp-long retrotransposon insertion in intron 32 of the TAF1 gene. The objectives of this study were to investigate whether (1) TAF1 expression is altered in induced pluripotent stem cells and differentiated neuronal models and (2) excision of the retrotransposon insertion restores normal TAF1 expression. Expression of TAF1 and its neuronal isoform were determined in induced pluripotent stem cells and in induced pluripotent stem cell-derived cortical neurons and spiny projection neurons using quantitative PCR. Genome editing-based excision of the retrotransposon insertion was performed on induced pluripotent stem cells from 3 X-linked dystonia-parkinsonism patients. Edited and unedited induced pluripotent stem cells from X-linked dystonia-parkinsonism patients and controls were differentiated into cortical neurons and spiny projection neurons, and TAF1 expression was compared across groups. TAF1 was reduced in patient-derived induced pluripotent stem cells (P < 0.05) and spiny projection neurons (P < 0.01). After genome editing, we observed higher TAF1 expression in edited compared with uned...Continue Reading

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Citations

Aug 29, 2018·Movement Disorders : Official Journal of the Movement Disorder Society·Charles Jourdan Reyes, Ana Westenberger
Apr 12, 2019·Annals of Neurology·Ana WestenbergerChristine Klein
May 23, 2019·Current Opinion in Neurology·D Cristopher BraggLaurie J Ozelius
Sep 20, 2020·Movement Disorders : Official Journal of the Movement Disorder Society·Martje G PaulyAloysius Domingo
Sep 12, 2020·Movement Disorders : Official Journal of the Movement Disorder Society·Christin KrauseHenriette Kirchner
Nov 24, 2020·Neurobiology of Disease·Christine J ArasaratnamRichard L M Faull
Sep 26, 2020·Movement Disorders : Official Journal of the Movement Disorder Society·Jamal Al AliXandra O Breakefield
Oct 26, 2020·Journal of Neural Transmission·Anne WeissbachAloysius Domingo
Mar 16, 2021·Journal of Neural Transmission·Arlene R NgRaymond L Rosales
Apr 21, 2021·Journal of Neural Transmission·Jelena PozojevicAna Westenberger
Aug 18, 2021·Movement Disorders : Official Journal of the Movement Disorder Society·Maria-Daniela CirnaruMichelle E Ehrlich

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