A team of researchers at the Cincinnati Children’s Hospital Medical Center has developed a method to test for Gaucher disease using dried blood samples – marking a big breakthrough for the Gaucher community when it comes to diagnostics and disease monitoring!
This is great news, since using dried blood samples is generally a lower cost option and has easier processing; samples can be shipped more easily to clinics this way.
Gaucher disease is a lysosomal storage disorder in which the activity of the enzyme beta-glucocerebrosidase is incredibly low or non-existent. If beta-glucocerebrosidase activity is too low, then glucocerebroside levels accumulate in cells and cause damage to tissues and organs.
So how and what exactly are they testing?
Mutations in the GBA1 gene lead to deficient production of an enzyme called acid beta-glucosidase, which in turn causes the buildup of lipids, particularly glucosylceramide and glucosylsphingosine, in several organs and tissues. Testing levels of this glucosylsphingosine is standard of monitoring Gaucher disease in patients; among other things, it was measured to keep an eye on disease progression and therapy effectiveness.
So the research team held a study to test the effectiveness for detecting the glucosylsphingosine using dried blood – or more specifically, dried plasma spots (DPS).
The method itself is based on tandem mass spectrometry, a technique that can identify a molecule (in this case glucosylsphingosine) by measuring each molecule’s intrinsic mass-to-charge ratio. According to the results of the study, this method proved accurate.
According to the researchers:
