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Interview with Yossi Shiloh

The European Molecular Biology Organisation recently published an interview with Israeli A-T expert Yossi Shiloh. It was Yossi’s team that first cloned the ATM gene back in 1995, since when he

Portrait of Yossi Shiloh

has been at the forefront of research to understand A-T and identify possible paths to treatment. Over the years, Yossi has received many awards for his work.

In the interview Yossi talks about how and why he became inspired to study A-T, the long but ultimately successful efforts to identify the gene and the challenges still facing A-T research. He also talks about the identification of the cause of A-T-like disorder, a much rarer condition closely related to A-T.

While the interview is long and in places a bit technical, most of it should be fairly easy for a non-scientist to follow. To read it, click on the image below.

EMBO reports – interview with A-T researcher Yossi Shiloh.  

Front page of interview with Yossi Shiloh

August 2020

ATM, the protein defective in A-T, is expressed and functions in all cells in the body and plays a role in the response to DNA damage. Although ATM loss results in most cells growing poorly, they do survive. However, in the cerebellum and particularly in cerebellar Purkinje cells ATM is essential and its absence causes progressive Purkinje cell loss. So why is ATM uniquely essential in these neuronal cells? Is it because these cells succumb to more DNA damage or is there and a unique role for ATM? Strangely, other ataxia disorders can also be caused by a defective DNA damage response – but the defective pathways appear distinct to those that require ATM. One possibility is that ATM has roles in these pathways that we do not understand. Other models have evoked an entirely distinct role for ATM in the brain. Yossi Shiloh has a recent review (see link below) where he argues that the cerebellar Purkinje cells have a unique set of features that make them particularly dependent upon DNA damage response that requires ATM. Cerebellar Purkinje cells are extremely metabolically active, have a unique nuclear architecture and can be removed by macrophage-like cells when their function diminishes. Thus, ATM lies at the hub of many circuits and Purkinje cells particularly require the circuits to be maintained by the ATM-dependent damage response pathway. The review encompasses a lot of recent data and provides a persuasive argument. To read an abstract of the review click on the link below.