Identified the causative gene for EAOH end elucidation the molecular mechanisms of neurodegeneration in EAOH

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We have previously identified the causative gene for early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH), an autosomal recessive neurodegenerative disease. We named the causative gene "aprataxin". This study was aimed to elucidate the molecular mechanisms of neurodegeneration in EAOH and, furthermore, to establish the therapeutic strategies for this diseases. In previous studies we showed that there are two major isoforms of aprataxin mRNA, of which we demonstrated that long form aprataxin is the component essential for its physiological function. Furthermore, we identified that aprataxin interacts with XRCC1 (X-ray repair cross complementing group 1) based on yeast two hybrid assay as well as im nuno coprecipitation experiments, raising the possibility that aprataxin has a physiological function in single strand DNA break repair (SSBR). In vitro reconstitution experiments of SSBR demonstrated that aprataxin contains 5'-phophatase as well as 3'-phophatase activities.Taken together these findings suggest that aprataxin is a new member of molecules involved in SSBR.