Unexplored genomic control regions yield the key to finding causes of raredisease uniofexeter NatureGenet
, where genetic variants disrupt the function of the pancreatic protein insulin, causing high blood sugar levels.
Until now, scientists have been unable to find the genetic cause of the condition in up to half of babies with Congenital Hyperinsulinism—one reason why treatments are scarce. The limited medications available often fail to work, sometimes meaning the patient has to endure their pancreas being removed. This often fails to cure the disease or in some cases can cause diabetes.
Dr. Flanagan explained:"We've really struggled to work out what's going on in these 50 percent of babies with no known genetic cause of Congenital Hyperinsulinism. We've been looking for defects in genes for years, but it remained frustratingly elusive." The impact of the genetic variants was that HK1 was turned on in the pancreas' of patients with Congenital Hyperinsulinism. The gene, which leads to insulin being produced even when blood sugar levels are low, is usually turned off in the pancreas. But the team found it was active—meaning it was working to lower blood sugar to dangerous levels. Studying a unique collection of pancreatic tissue confirmed this hypothesis.
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