CALM 2 MUTATIONS

CALM 2 MUTATIONS

Subject: Science & tech

Context : Folbigg, 53, was arrested in 2003 following a seven-week trial in which she was convicted of smothering her four children — Caleb, Patrick, Sarah and Elizabeth — over a ten-year period during moments of frustration.

The group of scientists and medical experts pushing for Folbigg to be pardoned have argued that her children died due to a rare genetic defect.

Concept:

CALM 2 GENETIC DEFECT

• This gene is a member of the calmodulin gene family. There are three distinct calmodulin genes dispersed throughout the genome that encode the identical protein, but differ at the nucleotide level.
• Calmodulin is a calcium binding protein that plays a role in signaling pathways, cell cycle progression and proliferation.
• Several infants with severe forms of long-QT syndrome (LQTS) who displayed life-threatening ventricular arrhythmias together with delayed neurodevelopment and epilepsy were found to have mutations in either this gene or another member of the calmodulin gene family.
• Mutations in this gene have also been identified in patients with less severe forms of LQTS, while mutations in another calmodulin gene family member have been associated with catecholaminergic polymorphic ventricular tachycardia (CPVT), a rare disorder thought to be the cause of a significant fraction of sudden cardiac deaths in young individuals.