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  4. Central and peripheral delivered AAV9-SMN are both efficient but target different pathomechanisms in a mouse model of spinal muscular atrophy
 
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research article

Central and peripheral delivered AAV9-SMN are both efficient but target different pathomechanisms in a mouse model of spinal muscular atrophy

Reilly, Aoife
•
Deguise, Marc-Olivier
•
Beauvais, Ariane
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April 25, 2022
Gene Therapy

Spinal muscular atrophy (SMA) is a neuromuscular disease caused by loss of the SMN1 gene and low SMN protein levels. Although lower motor neurons are a primary target, there is evidence that peripheral organ defects contribute to SMA. Current SMA gene therapy and clinical trials use a single intravenous bolus of the blood-brain-barrier penetrant scAAV9-cba-SMN by either systemic or central nervous system (CNS) delivery, resulting in impressive amelioration of the clinical phenotype but not a complete cure. The impact of scAAV9-cba-SMN treatment regimens on the CNS as well as on specific peripheral organs is yet to be described in a comparative manner. Therefore, we injected SMA mice with scAAV9-cba-SMN either intravenously (IV) for peripheral SMN restoration or intracerebroventricularly (ICV) for CNS-focused SMN restoration. In our system, ICV injections increased SMN in peripheral organs and the CNS while IV administration increased SMN in peripheral tissues only, largely omitting the CNS. Both treatments rescued several peripheral phenotypes while only ICV injections were neuroprotective. Surprisingly, both delivery routes resulted in a robust rescue effect on survival, weight, and motor function, which in IV-treated mice relied on peripheral SMN restoration but not on targeting the motor neurons. This demonstrates the independent contribution of peripheral organs to SMA pathology and suggests that treatments should not be restricted to motor neurons.

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Type
research article
DOI
10.1038/s41434-022-00338-1
Web of Science ID

WOS:000786417000001

Author(s)
Reilly, Aoife
•
Deguise, Marc-Olivier
•
Beauvais, Ariane
•
Yaworski, Rebecca
•
Thebault, Simon
•
Tessier, Daniel R.
•
Tabard-Cossa, Vincent
•
Hensel, Niko
•
Schneider, Bernard L.  
•
Kothary, Rashmi
Date Issued

2022-04-25

Published in
Gene Therapy
Subjects

Biochemistry & Molecular Biology

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Biotechnology & Applied Microbiology

•

Genetics & Heredity

•

Medicine, Research & Experimental

•

Biochemistry & Molecular Biology

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Biotechnology & Applied Microbiology

•

Genetics & Heredity

•

Research & Experimental Medicine

•

motor-neuron protein

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neuromuscular-junction

•

mice

•

phenotype

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rescue

•

sma

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survival

•

expression

•

defects

•

smn1

Peer reviewed

REVIEWED

Written at

EPFL

EPFL units
PTBTG  
Available on Infoscience
May 9, 2022
Use this identifier to reference this record
https://infoscience.epfl.ch/handle/20.500.14299/187694
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