A gene linked to a rare disease may be responsible for the higher frequency of lung disease in Aboriginal children. The same disease may also be more prevalent among French Canadians.
“Smoking, low vaccination rates, and sanitary conditions have often been cited as reasons for these lung problems in Indigenous children,” says Adam Shapiro, a respirologist at the Montreal Children’s Hospital, who is the lead author of the paper. study published at the end of February in the Journal of Pediatrics. “We show that there may be a genetic vulnerability. »
Dr. Shapiro has been treating patients with serious respiratory illnesses such as bronchiectasis for the past decade, many of whom are Indigenous. In his study, he demonstrates that a very rare gene, associated with a lung disease called primary ciliary dyskinesia (PCD), is present in four Aboriginal children from Canada and the United States. “Until now, we’ve only seen this gene in two Bedouin families in the Middle East,” he says. Seeing it in four Aboriginal patients shows that there may be an overrepresentation of this gene in this population. »
Bronchiectasis is a potential consequence of PCD, which is present at a rate varying between one in 7,500 and one in 30,000 people.
“We think we can have molecules that target the faulty proteins linked to this problematic gene,” says Dr. Shapiro. There are currently clinical trials for similar proteins linked to other lung diseases. »
A more immediate clinical consequence will be screening for this gene in Aboriginal children with lung disease.
Could there be birth screening for all Indigenous babies? “It’s too early to tell, but if we confirm that this gene is no longer present, it could be established. »
Over the course of his practice, Dr. Shapiro has also identified 130 patients with other PCD-related genes among descendants of settlers in New France.
“PCD is an under-addressed disease, partly because it’s hard to diagnose, but I think it’s going to be the next cystic fibrosis,” says Dr. Shapiro. As we have made progress in the treatment of cystic fibrosis, we will make progress in the treatment of PCD. But it will have to be screened properly, first in the most affected populations. This may be the case for French Canadians, we want to verify it. »
