Tanya Paull: ‘AT’: How Studies of a Rare Genetic Disorder Advanced Neuroscience and Cancer Research

Ataxia Telangiectasia (AT) is a rare inherited disorder in which young children develop severe ataxia (inability to control body movements) as a result of degenration of ‘Purkinje neurons’ in the cerebellum. AT children are highly prone to cancers and usually die before the age of 20.  In this episode Professor Tanya Paull talks about research that has revealed a remarkably broad array of functions of ‘ATM’ the gene mutated in AT. The disorder is inherited in a recessive manner such that both parents pass on a defective Atm gene to their child. A major function of ATM is to facilitate repair of damaged DNA. This deficiency increases the likelihood that gene mutations will accumulate that cause cancers. The degeneration of Purkinje neurons may involve DNA damage, oxidative stress and the accumulation of dysfunctional mitochondria.  A better understanding of ATM functions is leading to novel approaches for preventing and treating neurodegenerative disorders and cancers.

LINKS:

Dr. Paull’s lab page: https://sites.cns.utexas.edu/paulllab/home

Review article on AT: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5123280/pdf/13023_2016_Article_543.pdf

Review article on ATM: file:///Users/markmattson/Downloads/s41580-021-00394-2%20(1).pdf