An extremely rare mutation landed a woman in prison for murder

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Twenty years ago, Kathleen Folbigg was jailed after being found guilty of killing her four children. A few days ago she received a full pardon and was released.

A mutation in a CALM gene that has an impact one in 35 million It is now believed that she caused the deaths of her two daughters from a rare syndrome calmodulinopathy.

Only 135 People around the world are known to have this mutation, so Folbigg’s family is likely the only case in Australia. Another mutation could be responsible for the deaths of her two sons.

In 2003, a jury concluded that Folbigg had suffocated each of her children for over a decade; Caleb aged 19 days, Patrick aged 8 months, Sarah aged 10 months and Laura aged 18 months.

folbigg was found guilty There are three counts of murder and one count of manslaughter. She became known as Australia’s “worst female serial killer”.

Folbigg has always maintained her innocence. There was no evidence of suffocation or injury to the children. The trial focused on circumstantial evidence, particularly Folbigg’s diary, in which she wrote that “I feel guilt about them all” and that she went into detail about them struggles with motherhood.

At that time, the human genome had has just been sequenced for the first time It cost $300 million, so it wasn’t possible to test the children’s DNA for mutations that could explain their sudden deaths.

By 2015, however, the price of human genome sequencing will come down had dropped to $1,500. And some research has been done about CALM gene mutations that could explain what happened to the Folbigg children.

Three CALM genes – CALM1, CALM2 and CALM3 – encode the exact same protein, calmodulin, which is essential to life.

People All three CALM genes must function so the body can make enough of this protein to control the movement of calcium in cells.

The protein calmodulin helps with this Control the rhythmic contraction of the heart by opening and closing calcium channels in heart muscle cells.

in 2012, Scientists found that out A mutation in a single amino acid in the CALM1 gene caused irregular heartbeat and cardiac death in a large Swedish family.

A study in 2013 found that two infants had suffered multiple cardiac arrests due to a mutation in either the CALM1 or CALM2 genes. Another type of mutation in CALM2 caused cardiac arrest in two children Study 2016.

In a group of 74 children with a mutation in a CALM gene, 27 percent died of heart disease at an average age of 6 years Study 2019 found.

At this point, Folbigg’s The appeal was rejectedbut her sentence was slightly reduced.

during one investigating her case in 2019Genetics experts presented data on CALM mutations and linked them to cot death.

But while CALM mutations were found in two of the female children’s genomes, there was one lack of data This showed that these particular mutations were fatal, and Folbigg was returned to prison.

A Study published in 2020 found that Laura and Sarah had two novel CALM2 mutations that structurally altered their calmodulin proteins. In laboratory experiments, the researchers showed that these mutated proteins could not bind to or regulate two central calcium ion channels.

Mutations in the CALM2 genes of the Folbigg girls affected the calcium-binding strength of calmodulin. (Brohus et al. /EP Europace)

Before their deaths, the two Folbigg girls had respiratory problems, which can precede sudden cardiac death in children.

The two boys Caleb and Patrick did not have CALM mutations study found. However, they had a copy of a mutated BSN gene.

Around Half of the mice with this mutation die before six months and all have recurring seizures. This mutation could explain Patrick’s blindness and epileptic seizures and could be responsible for his early death.

All of this evidence culminated in one petition so that Folbigg is pardoned. This petition was signed by 90 scientists and sent to the Governor of New South Wales in 2021.

the petition called that Folbigg’s belief “was based on the assumption that the probability of four children in a family dying of natural causes is so improbable as to be practically impossible. This is flawed logic.”

A second request was initiated last year and Folbigg was finally pardoned on June 5, 2023. Folbigg will not serve the next 10 years of her 30-year sentence.

If your belief is overturned In the Criminal Court of Appeal, which can take up to a year, she could sue the government for millions in damages.

“Today is a victory for science and especially for truth,” Folbigg said after his release from prison.

“And I’ve been in prison for 20 years. I will always think of my children, mourn and miss my children and love them terribly.”

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