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The Role of Elastase in Lung Disease
When alpha-1 anti-tripsin deficiency affects the lungs, we're dealing with a toxic loss of function. And it turns out there's a completely different mechanism at work in the liver. When you look at affected liver tissue from alpha-1 patients under the microscope, you can see these PAS positive inclusions or clumps filling the tissue. This accumulation is called a toxic gain of function, as opposed to the loss of function that leads to emphysema.