The functional role of iASPP in inflammatory processes in the male reproductive system

Inflammation is an essential response in immune protection and tissue repair, but, while acute inflammation is normal, a healthy response to short-term stress or injury, chronic low-grade inflammation is implicated in number of illnesses such as cardiovascular disease, diabetes and infertility. 

 In a published work performed in our lab (EMBO Mol Med. 2017 9(3):319-336) in collaboration with Prof. Tzipora Falik-Zaccai, Arab-Christian (AC)-infants, from four families were diagnosed with dilated cardiomyopathy (DCM) associated with mild skin, teeth, and hair abnormalities. DCM is a life-threatening disorder whose genetic basis is heterogeneous and mostly unknown. All patients passed away before the age of 3-year-old.  

 Our results demonstrated PPP1R13L, which encodes iASPP, as the gene underlying this novel autosomal recessive (AR) cardio cutaneous syndrome (CCS) in humans, and strongly suggest that the fatal DCM during infancy is a consequence of failure to regulate transcriptional pathways necessary for tuning cardiac threshold response to inflammatory stressors.