The Folbig Mutation Impairs Calcium Channels

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Folbig mutation known as G114R impairs how calmodulin attaches to two crucial channels that control the movement of calcium into the cell. The combined effect of the variant on both channels will increase calcium in the cell, which increases the chance of a arrhythmia. In November 2020, the international team published its findings in the journal EP Europace.

Kathleen Folbigg has spent nearly 20 years in prison after being convicted of killing her four children. But in 2018, a group of scientists began gathering evidence that suggested another possibility for the deaths — that at least two of them were attributable to a genetic mutation that can affect heart function. A judicial inquiry in 2019 failed to reverse Folbigg’s conviction, but this month, the researchers will present new evidence at a second inquiry, which could ultimately spell freedom for Folbigg.

This is an audio version of our Feature: She was convicted of killing her four children. Could a gene mutation set her free?

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