Researchers Find Potential Congenital Hyperinsulinism Cause in Unexplored Genomic Region


There are a number of different forms of congenital hyperinsulinism, along with a variety of different causes: a mother’s unmanaged diabetes, premature birth, gene mutations. But up to half of the cases of congenital hyperinsulinism have no known genetic cause. However, with new research, this may soon change. According to Tech Explorist, researchers from the University of Exeter recently discovered genetic alterations in a previously unexplored genomic region which could unlock the key to a better understanding of this condition.

In the research, published in Nature, the authors explored the genomes of seventeen people living with congenital hyperinsulinism. After sequencing these genomes, the researchers found HK1 variants beyond the exome. Rather than affecting or occurring within proteins, these variants played a role in a genomic region known for genetic regulation. In short, this region can turn genes “on” or “off,” affecting how they work. 

In these individuals, HK1 variants affected this regulatory process. For example, in healthy individuals, the pancreas can “turn off” the insulin-generating gene. But in those with congenital hyperinsulinism, the variants caused HK1 in the pancreas to remain “on.” As insulin continues to be produced, blood sugar drops lower and lower. To verify this within the seventeen patients examined, the research team also analyzed pancreatic tissue samples. 

Moving forward, more research is needed on HK1 mutations. This research could lead to not only a better understanding of congenital hyperinsulinism, but of the development of drugs which can target or inhibit HK1. 

What is Congenital Hyperinsulinism?

Congenital hyperinsulinism is a condition in which the pancreas secretes too much insulin. Normally, insulin plays a role in controlling blood sugar levels. However, when too much insulin is secreted, blood sugar levels become abnormally low. This can cause frequent and sometimes dangerous levels of hypoglycemia. An estimated 50,000 people or fewer within the United States have this condition. Symptoms often manifest in infancy or early childhood. These symptoms and characteristics can include:

  • Irritability
  • Lethargy and sleepiness
  • Rapid heart rate
  • Excessive hunger
  • Shakiness
  • Rapid pulse
  • General bodily weakness
  • Confusion
  • Seizures
  • Coma
Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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