Relating genetic mutations to DNA strand break repair in microencephaly with early onset seizures

Takeaway

  • PNKP mutations in microencephaly with early onset seizures (MCSZ) are associated with reduced DNA strand break repair and hyperactivity of protein poly (ADP-ribose) polymerase 1 (PARP1).

Why this matters

  • Evidence of PARP1 hyperactivation in MCSZ cells links this disease to other neurological disorders which exhibit the same cellular hallmark, and could help identify targets for new therapeutic approaches.