Solving the genetic puzzle of why babies developed a rare type of diabetes has uncovered a new biological pathway that is fundamental to insulin production, and could boost research into new treatments for more common forms of diabetes. Published on November 9, 2020 in the Journal of Clinical Investigation, the study used genome sequencing to reveal that a group of babies with shared clinical features, who developed diabetes soon after birth, all had genetic changes in the YIPF5 gene. The research combined stem cell research and CRISPR gene editing tools to show that this gene is essential for function of the cells producing insulin. The article is titled “YIPF5 Mutations Cause Neonatal Diabetes and Microcephaly Through Endoplasmic Reticulum Stress” (https://www.jci.org/articles/view/141455). The research article is accompanied by a commentary titled “YIPF5 Mutations Cause Neonatal Diabetes and Microcephaly: Progress for Precision Medicine and Mechanistic Understanding” (https://www.jci.org/articles/view/142364). The research team, led by scientists at the University of Exeter (UK), the Université Libre de Bruxelles (Belgium), and University of Helsinki (Finland), working with other international collaborators, went on to show how these genetic changes result in high levels of stress within the cells, causing cell death. The study shows for the first time that YIPF5 gene function is essential for neurons and insulin-producing beta cells, but appears to be dispensable for the function of other cells.
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