Lack of effect from genetic deletion of Hdac6 in a humanized mouse model of CMT2D.

Document Type

Article

Publication Date

6-1-2024

Keywords

JMG, SS1, Animals, Charcot-Marie-Tooth Disease, Histone Deacetylase 6, Disease Models, Animal, Mice, Humans, Sciatic Nerve, Mice, Knockout, Gene Deletion, Male, Tubulin, Glycine-tRNA Ligase, Neural Conduction

JAX Source

J Peripher Nerv Syst. 2024;29(2):213-20.

ISSN

1529-8027

PMID

38551018

DOI

https://doi.org/10.1111/jns.12623

Grant

National Cancer Institute; National Institute of Neurological Disorders and Stroke; Charcot- Marie-Tooth Association; NIH, Grant/Award Numbers: CA34196, R37NS054154

Abstract

BACKGROUND: Inhibition of HDAC6 has been proposed as a broadly applicable therapeutic strategy for Charcot-Marie-Tooth disease (CMT). Inhibition of HDAC6 increases the acetylation of proteins important in axonal trafficking, such as α-tubulin and Miro, and has been shown to be efficacious in several preclinical studies using mouse models of CMT.

AIMS: Here, we sought to expand on previous preclinical studies by testing the effect of genetic deletion of Hdac6 on mice carrying a humanized knockin allele of Gars1, a model of CMT-type 2D.

METHODS: Gars1

RESULTS: The genetic deletion of Hdac6 increased α-tubulin acetylation in the sciatic nerves of both wild-type and Gars1

INTERPRETATION: Our results differ from those of two previous studies that demonstrated the benefit of the HDAC6 inhibitor tubastatin A in mouse models of CMT2D. While we cannot fully explain the different outcomes, our results offer a counterexample to the benefit of inhibiting HDAC6 in CMT2D, suggesting additional research is necessary.

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