A new mouse model provides insight into genetic neurological disorders

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A new mouse model provides insight into genetic neurological disorders

http://www.sciencecodex.com/a_new_mouse_model_provides_insight_into_genetic_neur\

ological_disorders

Neurosensory diseases are difficult to model in mice because their symptoms are

complex and diverse. The genetic causes identified are often lethal when

transferred to a mouse. The lack of animal models slows progress in

understanding and treating the diseases. By strategically altering a

protein-making molecule, a mouse was made to help understand nervous system

diseases that impair feeling and cause paralysis of the arms and legs in humans.

Scientists have created a mouse to help understand human neuronal diseases that

impair a patient's ability to feel and to move their arms and legs. By

strategically altering a protein-making molecule, a mouse was made with symptoms

similar to the nervous system diseases, Charcot-Marie-Tooth (CMT) and hereditary

motor neuropathy (HMN).

In CMT and HMN, neurons that signal and maintain muscle cells become defective,

which causes weakening and loss of muscle that is significant enough in some

cases to lead to death. The symptoms become progressively worse over time and no

effective treatments or cures exist for these diseases.

Researchers came together from the University College London (UCL), the Medical

Research Centre (MRC) Harwell, the University of Oxford, and the University of

London in England, Vrije University in The Netherlands and Laboratories

in the US to make a genetic change in mice that has been associated with CMT and

HMN diseases in people.

Neurosensory diseases are difficult to model in mice because they involve

symptoms that are complex and diverse. These diseases are passed from parents to

their children but the genetic causes identified are often lethal when

transferred to a mouse. The lack of animal models slows progress in

understanding and treating the diseases.

The researchers made a mutation in a protein, which is part of the protein

building machinery, called glycyl-tRNA synthetase (GARS). As described in their

study in Disease Models & Mechanisms (DMM), dmm.biologists.org> mice with

mutations in the GARS gene have some of the same symptoms as CMT and HMN

patients.

Their hope is that this mouse can be used to study what causes these diseases

and how it might effectively be treated. Mice with defects in some of this

protein have problem with grip strength and motor skills while symptoms are more

pronounced in animals that carry the mutation in all of their protein copies.

This report is the first documentation of successful breeding of animals with

this mutation, giving researchers access to new materials to understand how this

gene influences human neuronal diseases.

When the researchers made the same mutation in two different breeds of mice it

caused two distinguishable sets of symptoms, demonstrating that the genetic

background influences the effects of the GARS gene mutation. This variability in

the mouse disease symptoms is also seen in humans, and may help shed light on

how CMT and HMN differently affect individual patients' symptoms.