Ataxia-telangiectasia

What is Ataxia-telangiectasia?

Ataxia telangiectasia (A-T) is a rare genetic disorder that is characterised by defects in cell growth and division, hypersensitivity to radiation and metabolic stress, compromised immune system, neurodegeneration and increased susceptibility to cancer.

What causes Ataxia-telangiectasia?

The disease is caused by mutations in the Ataxia telangiectasia-mutated (ATM) gene. ATM is a crucial gene that is known to control several cellular processes including DNA damage response and repair, mitochondrial function, apoptosis and senescence.

What A-T research is being done at UQCCR?

The A-T lab headed by Professor Martin Lavin has made several pivotal discoveries on the role of the ATM gene in DNA damage response, resolving oxidative stress, optimising mitochondrial function. The lab recently discovered several biomarkers that will inform a clinical trial aimed at imprving the quality of lives of A-T patients. Currently, the A-T lab is involved in a phase II, multi-centered clinical trial (funded by MRFF) that aims to investigate the benefits of an anaplerotic approach to boost the mitochondrial functioning to boost cellular processes in A-T patients.