Inherited metabolic disorders — where the body can’t break down specific nutrients from food leading to a range of serious health problems — are often caused by a defective gene.
In this important study, researchers found an unusual genetic mutation behind three children’s undiagnosed, degenerative conditions: a repeat expansion of DNA. In this specific mutation, the gene appears undamaged but does not function because the DNA adjacent to it has extended several hundred times its normal length.
“To detect this kind of DNA multiplication, you can only use whole genome sequencing and have to search through billions of pieces of DNA; it’s truly a search for the needle in the haystack,” said lead author Dr. Clara van Karnebeek, associate professor in the department of pediatrics at UBC and in pediatrics and biochemical genetics at Amsterdam University Medical Centers and an investigator at BC Children’s. “With our new approach we have finally solved our mystery cases, and we now expect to find the genetic cause of other, as of yet unexplained, genetic metabolic diseases.”
