Jax Labs eBook - 28

Generating Effective Mouse Models
of Friedreich Ataxia
Human YAC and tissue-specific conditional mouse
models mimic protein levels and symptoms seen in patients

F

riedreich Ataxia (FA) is a progressive, autosomal recessive, neurodegenerative
disease. Its onset, typically around puberty, is marked by a rapid progression,
with most patients relying on a wheelchair by their late 20s. FA is caused by a
trinucleotide (GAA) repeat expansion mutation within intron 1 of the frataxin gene. The
severity of the disease directly correlates to the size of the expansion.
Symptoms include nervous system damage and progressive loss of movement,
with cardiac failure being the leading cause of death. While there is no cure, potential
treatment strategies include gene therapy, frataxin stabilizers or enhancers,
recombinant protein replacement, modulation of frataxin-controlled pathways, and
regulation of the transcription by RNA-based approaches.
MODELS USED IN PRECLINICAL IN VIVO STUDIES
Generating clinically relevant mouse models of FA is vital to understanding disease
etiology and for developing effective therapeutics. With a wide range of expertise, The
Jackson Laboratory is working with leading scientists to further existing models and
develop new models, each with their own specific benefits, for use in research and
preclinical testing.
The yeast artificial chromosome (YAC) transgenic models carry the allelic expansion
observed within the human population and may be best suited to determine if a

28 | GENengnews.com

A D D I T I O N A L CO N T E N T

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Jax Labs eBook

Table of Contents for the Digital Edition of Jax Labs eBook

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