The role of malfunctioning DDR in cerebellar degeneration and aging: functional relationship between ATM and WRN
Accumulation of DNA damage is a devastating occurrence that is a side effect of malfunction of a critical homoeostatic process called the DNA damage response. Accumulation of damage over time manifests itself in aging of renewable tissues and distruction of the nervous system. My research focuses on the conection between malfunciotning DDR componenets and the degeneration of the cerebelum in an autosomal recseive disese called Ataxia Telangientaxia (A-T). I have Generated animal models with various degrees of DNA damage that display much of the human phenotypes of A-T. Using these models I am now investigating the ealy stages of atrophy in the cerebellum in A-T inorder to truely understand the point of disease onslaught and origin.
Research Categories: Ataxia, DNA damage, Neurodegeneration