CALM2 mutations

CALM2 mutations

Part of: GS Prelims and GS – III – Sci & Tech; Biotechnology

In news

• In Australia, Leading scientists and medical experts are calling for the pardon of convicted child killer Kathleen Folbigg after a recent study showed that her victims
  (her own children) may have died of natural causes.

Key takeaways

• Medical experts have argued that her children died due to a rare genetic defect.
• They inherited a genetic mutation from their mother called CALM2.
• CALM-2 mutations are known to cause sudden death due to cardiac arrest.
• Calmodulin 2 is a protein that is encoded by the CALM2 gene in humans. 
• Mutations in CALM2 are associated to cardiac arrhythmias.