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@ARTICLE{Vlkner:155698,
author = {Völkner, Manuela and Pavlou, Marina and Büning, Hildegard
and Michalakis, Stylianos and Karl, Mike Oliver},
title = {{O}ptimized {A}deno-{A}ssociated {V}irus {V}ectors for
{E}fficient {T}ransduction of {H}uman {R}etinal
{O}rganoids.},
journal = {Human gene therapy},
volume = {32},
number = {13-14},
issn = {1557-7422},
address = {New York, NY},
publisher = {Liebert},
reportid = {DZNE-2021-00866},
pages = {694 - 706},
year = {2021},
abstract = {The most widely used vectors for gene delivery in the
retina are recombinant adeno-associated virus (rAAV)
vectors. They have proven to be safe and effective in
retinal gene therapy studies aimed to treat inherited
retinal dystrophies, although with various limitations in
transduction efficiency. Novel variants with modified capsid
sequences have been engineered to improve transduction and
overcome limitations of naturally occurring variants.
Although preclinical evaluation of rAAV vectors based on
such novel capsids is mostly done in animal models, the use
of human induced pluripotent stem cell (hiPSC)-derived
organoids offers an accessible and abundant human testing
platform for rAAV evaluation. In this study, we tested the
novel capsids, AAV9.GL and AAV9.NN, for their tropism and
transduction efficiency in hiPSC-derived human retinal
organoids (HROs) with all major neuronal and glial cell
types in a laminated structure. These variants are based on
the AAV9 capsid and were engineered to display specific
surface-exposed peptide sequences, previously shown to
improve the retinal transduction properties in the context
of AAV2. To this end, HROs were transduced with increasing
concentrations of rAAV9, rAAV9.GL, or rAAV9.NN carrying a
self-complementary genome with a cytomegalovirus-enhanced
green fluorescent protein (eGFP) cassette and were monitored
for eGFP expression. The rAAV vectors transduced HROs in a
dose-dependent manner, with rAAV9.NN achieving the highest
efficiency and fastest onset kinetics, leading to detectable
eGFP signals in photoreceptors, some interneurons, and
Müller glia already at 2 days post-transduction. The
potency-enhancing effect of the NN peptide insert was
replicated when using the corresponding AAV2-based version
(rAAV2.NN). Taken together, we report the application of an
HRO system for screening novel AAV vectors and introduce
novel vector candidates with enhanced transduction
efficiency for human retinal cells.},
keywords = {Animals / Dependovirus: genetics / Gene Transfer Techniques
/ Genetic Vectors: genetics / Green Fluorescent Proteins:
genetics / Humans / Induced Pluripotent Stem Cells /
Organoids / Retina / Transduction, Genetic /
adeno-associated virus (Other) / engineered AAV vector
(Other) / human retinal organoids (Other)},
cin = {AG Karl},
ddc = {610},
cid = {I:(DE-2719)1710004},
pnm = {352 - Disease Mechanisms (POF4-352)},
pid = {G:(DE-HGF)POF4-352},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:33752467},
doi = {10.1089/hum.2020.321},
url = {https://pub.dzne.de/record/155698},
}