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 Aboriginal children,” says Adam Shapiro, a respirologist at the Montreal Children’s Hospital, who is the lead author of the report. study published at the end of February in the Journal of Pediatrics. “We show that there may be a genetic vulnerability. »
The rate of bronchiectasis, damage to the airways, is less than 5 cases per 100,000 children in Canada. But among the Inuit, for example, it exceeds 200 per 100,000.
The Dr Shapiro has been caring for patients with serious respiratory illnesses like bronchiectasis, many of whom are Indigenous, for a decade. 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.
Screening
“We think we can have molecules that target the defective proteins linked to this problematic gene,” says Dr.r 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.
If we see that this gene is present, we could decide to be more aggressive with medication, or with medical imaging, to prevent damage to the respiratory tract. Once this damage is created, there are other problems later in life.
Dr Adam Shapiro, pulmonologist at the Montreal Children’s Hospital
Could there be birth screening for all Aboriginal babies? “It is too early to do so, but if we confirm that this gene is no longer present, it could be established. »
New France
Throughout his practice, the Dr Shapiro also identified 130 patients with other PCD-related genes among descendants of settlers in New France.
“PCD is a disease that gets overlooked, partly because it’s hard to diagnose, but I think it’s going to be the next cystic fibrosis,” says Dr.r 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 of French Canadians, we want to verify it. »
Learn more
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- Number of genes linked to primary ciliary dyskinesia
Source : Journal of Pediatrics