Topic summary
APTX
Extracted from the Wikipedia article Aprataxin.
Premature aging
Aptx mutant mice have been generated, but they lack an obvious phenotype. Another mouse model was generated in which a mutation of superoxide dismutase I (SOD1) is expressed in an Aptx mouse. The SOD1 mutation causes a reduction in transcription recovery following oxidative stress. These mice showed accelerated cellular senescence. This study also demonstrated a protective role of Aptx in vivo and suggested that the loss of Aptx function results in progressive accumulation of DNA breaks in the nervous system, triggering hallmarks of systemic premature aging (see DNA damage theory of aging).