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Reversibility of motor dysfunction in the rat model of NGLY1 deficiency

Admin Aug 19, 2021

Reversibility of motor dysfunction in the rat model of NGLY1 deficiency

testimonial

 

The first person with NGLY1 deficiency (NGLY1-CDDG) was identified in 2012. Since then, more than 60 new patients have been diagnosed worldwide. NGLY1 deficiency is caused by mutations in NGLY1 gene, resulting in a broad spectrum of clinical features including developmental delay, seizure, intellectual disability, movement disorder and a lack or absence of tears. It is not yet understood how mutations in the NGLY1 gene leads to the various symptoms of NGLY1 deficiency and no effective therapy is currently available.

 

A new study published by Dr. Tadashi Suzuki’s research team presents exciting results that may pave the way for developing gene therapies for NGLY1 deficiency. Previously, Dr. Suzuki’s team developed a rat model of NGLY1 deficiency and showed that the rats display similar symptoms to human NGLY1 deficiency patients (Read the Asahina et. al 2020 study here). In their recent study, Asahina and colleagues showed that administering an AAV9-based human NGLY1 gene to the central nervous system (CNS) of the mice reversed their movement disorder and increased the activity of the NGLY1 enzyme in the brain.

 

This study demonstrates that the rat model is useful for to evaluate potential therapies for NGLY1 deficiency and highlights the potential of gene therapy-based treatment.

 

Journal Reference:

Asahina et al. (2021) Reversibility of motor dysfunction in the rat model of NGLY1 deficiency. Molecular Brain. 10.1186/s13041-021-00806-6