Genetic Analysis Identifies microRNAs Associated with Diabetes

A study published in the Proceedings of the National Academy of the Sciences (PNAS) determined that types of microRNA (miRNA) detected in human pancreatic cells are associated with type 2 diabetes (T2D). In animal- and cell-based models, earlier research has confirmed this phenomenon

“Some of the human pancreatic islet microRNAs we found to be associated with diabetes have not been well-studied previously,” said Praveen Sethupathy, PhD, professor of physiological genomics at Cornell University, Ithaca, New York, and senior author of the study, in the NIH press release. “The majority of prior studies have been in rodents or in islet-like groups of cells growing in a dish. It has not been clear whether or to what extent the discoveries made in these studies are relevant to human pancreatic islets and diabetes.”

The study, led by researchers from the National Human Genome Research Institute, sequenced DNA from 63 participants. The researchers characterized miRNA expression into cis- and trans-acting genetic components.

At the close of the study, they determined that 84 human pancreatic islet miRNAs could be transmitted genetically. Most of these heritable miRNAs were regulated by trans-acting genetic effects. The researchers also identified five miRNA-expression quantitative trait loci (eQTLs).

The study results indicate that specific genes affect the expression level of miRNAs in pancreatic islet cells. Genomic variations can account for varying levels of certain types of miRNAs. Furthermore, identifying genomic variations implicated in diabetes may allow researchers to develop new diagnostic approaches and treatment methods for T2D.

“Based on this work, and building on previous studies, we hope one day to be able to identify accurate microRNA biomarkers for early detection and treatment of diabetes and improve outcomes for patients in the future,” said Henry Taylor, PhD, candidate at the University of Cambridge, an NIH Oxford-Cambridge Scholar and first author of the study in the release.

Millions of Americans are affected by diabetes each year — predominantly T2D. New developments regarding the pathophysiology of T2D may improve patient care strategies, treatment times, healthcare spending, and patient outcomes