The strangest issues.. How did a rare genetic mutation lead to a mother being unjustly imprisoned on charges of killing her four children?

A few days ago, Kathleen Fulbig – dubbed “Australia’s worst serial killer” – received a full pardon and regained her freedom after spending 20 years in prison.

Volpig was convicted of killing her four children, although there was no evidence that the children had been strangled or injured, but the trial relied on circumstantial evidence, specifically Volpig’s diary in which she wrote that “the feeling of guilt towards them all haunts me,” in addition to recounting the details of her struggle with motherhood.

protein coding gene

The story goes back to 2003, when the jury concluded that Volpig strangled each of her children to death over a decade: Caleb, 19 days old, Patrick, 8 months old, Sarah, 10 months old, and Laura, 18 months old. . Volpig was then convicted of three counts of murder and one count of manslaughter.

The researchers believe that a mutation in the CALM gene – the gene responsible for coding the protein – caused her two daughters to die of Calmodulinopathy, which causes an irregular heartbeat.

According to a report published on the site “Science Alert” (Science Alert), only 135 people worldwide have this mutation, so the Fulpig family is likely the only case in Australia.

Twenty years ago, the cost of revealing the first sequence of the human genome was $300 million, so it was not possible to screen the children’s DNA for mutations that could explain their untimely deaths.

But by 2015, that cost had dropped to $1,500. Some research was done on genetic mutations of the three Calm genes, Calm 1, Calm 2, and Calm 3, which encode the protein Calmodulin essential to life.

Humans need the three CALM genes to work in order for the body to make enough calmodulin to control the movement of calcium around cells, and to control the rhythmic contraction of the heart by opening and closing calcium channels in heart muscle cells.

Mutation in the Kalm gene

And in 2012, is found Scientists have found that a single amino acid mutation in the Calm 1 gene caused arrhythmias and deaths in a large Swedish family. And found study In 2013, two infants had multiple cardiac arrests due to a mutation in the CALM 1 or CALM 2 genes.

And in study In 2016, another type of mutation in Calm2 caused heart failure in two children. And found study A 2019 study found that in a group of 74 children with a mutation in the CALM gene, 27% died of heart disease at an average age of 6 years.

During the reinvestigation of the Fulpig case in 2019, geneticists provided data on the Kalm mutations and linked them to sudden infant mortality. Although CALM mutations were found in two of the genomes of female children, there was a lack of data showing that these mutations were lethal. The court rejected Fulbig’s appeal, and she was returned to prison, but her sentence was reduced slightly.

mutated gene

And found study Published in 2020, Laura and Sarah had two new mutations in Calm2 that caused the Calmodulin proteins to be structurally altered.

In laboratory experiments, the researchers showed that these mutant proteins could not bind to or regulate two axial channels of calcium ions, which led to the two girls suffering from breathing problems before their death, which can precede sudden cardiac death in children.

The study found that children Caleb and Patrick did not have CALM mutations, but they did have one copy of the mutated BSN gene that encodes the Bassoon protein. The researchers found that nearly half of the mice with this mutation die before they are 6 months old, and all suffer from recurrent seizures. This mutation may explain Patrick’s blindness and epileptic seizures, and may explain his early death as well.

All of this scientific evidence culminated in the end petition The pardon of Fülbig was signed by 90 scholars, and was sent to the Governor of New South Wales in 2021. It says petition Volpig’s conviction was “based on the assumption that the possibility of 4 children from one family dying of natural causes is unlikely, and this is flawed logic.”

Volpig was pardoned on June 5, after serving 20 years out of the 30 she received. If her conviction is overturned in a criminal appeals court, which could take up to a year, she could sue the government for millions of dollars in damages.

“Today is a victory for science and for the truth in particular,” Volpig said after her release. “For the past 20 years I have been in prison always thinking of my children, grieving for them, missing them and loving them dearly.”