Could a single gene cause serious health risks in children?

Written by By Josh Dash, CNN

Canadian researchers hope to discover the causes of a common infection of young children after a paediatrician identified a link between a dangerous intestinal bacteria and a disease that is particularly bad for kids.

Severe diarrhea, which usually develops in early childhood, can be an indicator of a strain of E. coli infection with a single gene linked to serious health risks. But the bacterium is often present in childhood, not necessarily causing disease.

A recent study of 80 previously infected children by pediatrician Oliver Brown at Calgary’s Peter Lougheed Children’s Hospital found that some had highly aggressive cases of hemolytic uremic syndrome (HUS), a life-threatening condition in which the kidneys are destroyed.

“We found that in the most severe cases they had mutations in one of the genes that allow the bacteria to multiply inappropriately and affect the metabolism,” Brown said. “So the growth rate and the number of cells it can create is higher.”

In such extreme cases, people can lose their ability to excrete toxins and toxins can move through the blood system and damage organs, including the brain. There are hundreds of genes that control cell growth, such as telling cells to divide. One gene, W32, allows for the diversity of genes that both multiply and cause a disease.

Scott Collins at the Children’s Hospital of Philadelphia, who was not involved in the study, said W32 could be responsible for a dramatic increase in hemolytic uremic syndrome since 2014, when it was first detected in children, but studies have been inconclusive.

“It appears to be a rare, uncommon occurrence, but when it does occur, it’s of high severity, and its prevalence is not being investigated,” Collins said.

On Sunday, Brown is set to lead an international team that includes researchers from the Rocky Mountain Institute, the University of Alberta, and the Pembina Institute, a nonprofit environment and energy research organization. The group hopes to track down and unmask the source of the pathogen.

“If we can identify the bacteria that is associated with HUS, then we can find these drugs,” Brown said. “Our goal is to identify the underlying cause of this problem.”

Brown said the group wants to look at blood, stool and bone marrow samples to identify the genetic variations that lead to the development of hemolytic uremic syndrome.

Asked how often the bacterium that causes the infection is present in children, Brown pointed to an article published in 2018 in the New England Journal of Medicine that said “they are infected frequently by E. coli.”

“There are many viruses that can cause diarrhea, and E. coli is the most common cause of diarrhea for pediatric patients in Canada and the US, but it’s also a common bacterium and organism that can infect us and cause us to have diarrhea,” he said.

The researchers have yet to track down the first infections of E. coli in young children. The laboratory used to track that research failed to produce enough samples, so the researchers now aim to make the samples they do have of the different strains available at the clinic.

“This is an area of research that needs to be taken up,” Brown said. “It’s important to recognize that most children are not going to have severe or life-threatening disease from E. coli. What this research is hopefully going to do is help us to develop ways to help these children in their early years.”

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