Tuesday, 7 May 2013

Researchers create disease-in-a-dish model for Ataxia Telangiectasia

Researchers at the University of California, Los Angeles (UCLA) just announced that they have successfully used induced pluripotent stem cells (iPSCs) to create the first disease-in-a-dish model for Ataxia Telangiectasia (A-T), a rare, genetic, neurodegenerative, disease causing severe disability. The researchers consider their discovery to be a major advance for A-T research as now scientists have a reliable model to study the condition and to test new drugs.

Although mouse models for A-T do exist, they aren't very reliable since mice with A-T don't exhibit the more debilitating effects that human patients do. This is why the creation of a model based on human neural cells is so important, say the UCLA researchers.

During the study, the UCLA team, led by Peiyee Lee, used neural cells derived from iPSCs, developed by skin cells of A-T patients with a specific gene mutation. This allowed the creation of a disease-in-a-dish model featuring many A-T characteristics. For example, the lab-grown neural cells lack the ATM protein and are unable to repair DNA damage.

Later, the research team investigated the therapeutic potential of a new type of experimental drugs called "small molecule read-through (SMRT) compounds".

“A-T patients with no ATM activity have severe disease but patients with some ATM activity do much better. This makes our discovery promising, because even a small increase in the ATM activity induced by the SMRT drug can potentially translate to positive effects for patients, slowing disease progression and hopefully improving their quality of life.” said Lee.

The study suggests that SMRT compounds may improve the immune function of A-T patients and decrease their cancer susceptibility. Furthermore, the iPSC-based model is an invaluable tool that can be used to further understand AT and to investigate more potent SMRT drugs.

The SMRT drugs used in this study have shown potential in treating some other rare diseases, including:

  • Cystic fibrosis
  • Duchenne muscular dystrophy
  • Spinal muscular atrophy
  • Hurler Syndrome
  • Beta-Thalassaemia Factor VII deficiency
  • Hailey-Hailey disease

Ataxia telangiectasia (also known as Louis–Bar syndrome) is a rare, neurodegenerative, inherited disease causing severe disability. The disease affects many parts of the body, causes difficulty with movement and coordination and weakens the immune system causing a predisposition to infection and cancer.

Lee, P., Martin, N., Nakamura, K., Azghadi, S., Amiri, M., Ben-David, U., Perlman, S., Gatti, R., Hu, H., & Lowry, W. (2013). SMRT compounds abrogate cellular phenotypes of ataxia telangiectasia in neural derivatives of patient-specific hiPSCs Nature Communications, 4 DOI: 10.1038/ncomms2824

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