JCI interpretation! In-depth understanding of the pathogenesis of rare diabetes may help clarify the mysteries of insulin production in the body!

18, 2020 // -- In a recent study published in the international journal Journal of Clinical Investigation, scientists from the University of Exeter and others revealed the molecular mechanisms of insulin production by studying rare types of diabetes; In the
study, researchers used genome sequencing to reveal a group of babies with the same clinical characteristics who developed diabetes shortly after birth, all carrying genetic changes in the YIPF5 gene, and combined stem cell research with CRISPR gene editing tools to find that the YIPF5 gene is important for the function of cells to produce insulin. In the
article, the researchers revealed how these genetic changes lead to elevated stress levels in cells that induce cell death, and for the first time in this study, the yiPF5 gene's function is important for neurons and insulin-producing β cells, but seems to be available for other cells.
Photo Source: CC0 Public Domain The results of this paper are expected to help understand which cell stages are important for making insulin, which helps regulate the body's blood sugar levels and maintain the function of insulin-producing cells in the pancreas, and could help researchers develop new therapies to treat patients with common types of diabetes, which currently affects 460 million healthy people worldwide.
researcher Elisa De Franco said the study highlights the importance of gene discovery in understanding the underlying mechanisms of biology, in which case we have identified a gene that is important for the function of insulin-producing cells and neuron cells, and illustrates that a previously unknown biological pathline may be important for insulin-producing cells, which could help to better understand the pathogenesis of other types of diabetes later in life.
many babies develop diabetes at six months of age, and more than 85 percent of cases may be caused by a misspelling of DNA, a genetic mutation, and some of these children have other problems that affect their brain health.
To clarify which genes are important for insulin-producing cells, researchers studied the genetic characteristics of about 190 patients around the world who developed diabetes shortly after birth, using state-of-the-art genetic techniques, and found that six infants had very similar clinical characteristics, including epilepsy and gestation, and that their bodies carried mutations in the YIPF5 gene.
Then the researchers used state-of-the-art techniques in insulin-producing cells and stem cells to understand how the YIPF5 gene works in insulin-producing cells, and the results showed that when the YIPF5 gene was missing or there was a genetic change in the patient's body, insulin-producing cells did not produce insulin as normal, and in order to cope with this failure, the cells needed to activate the stress mechanism, which eventually led to cell death.
cells' ability to differentiate into insulin-producing cells may help us study errors in the body of rare forms of diabetes and other types of diabetes, said β Miriam Cnop, a researcher at the University of New Things.
Using CRISPR gene-editing technology, researchers can correct genetic mutations in patients in stem cells to better understand the disease effects of genetic mutations, combine gene-editing techniques with stem cells, or provide scientists with new and more powerful tools to study the pathogenesis of disease, and the results may also help scientists diagnose and treat diabetes more effectively.
The results of this paper could also provide researchers with more information on how β cells in the body make insulin and what happens when the process err on the go, and provide an in-depth understanding of the mechanisms by which rare diabetes occurs or can help develop new ways to cure and prevent the disease.
() References: Toni I. Pollin, Simeon I. Taylor. YIPF5 mutations cause neonatal diabetes and microy: progress for precision medicine and mechanistic understanding, JCI (2020) DOI:10.1172/JCI142364