Prader-Willi syndrome (PWS), a complex genetic condition, results from loss of function of genes on chromosome 15q. It triggers physical issues, including a feeling of hunger, hypotonia, poor growth, intellectual disability, hyperphagic obesity, low hormone levels, etc.. Approximately 1 in 10,000 to 30,000 people have the condition, for which there is no cure. Signs usually begins early in life. A blood test called methylation analysis has been used to determine whether an individual has the genetic defects.
Writing in The Journal of Clinical Investigation, investigators from Columbia University, University of Florida College of Medicine Gainesville, Université de Toulouse and collaborators report that the prohormone convertase PC1 and protein NHLH2 are decreased in PWS. One corresponding author of the paper Lisa C. Burnett noted that the genes involved in PWS have been determined but the mechanism through which they induce the condition remains to be explored.
Their study reveals a connection between genetic mutations and lower hormone levels found in the condition. The investigators used PWS patient induced pluripotent stem cell-derived neurons to find that PWS patient cells had much lower concentrations of PC1 and NHLH2. NHLH2 plays a role in the production of PC1.
The investigators then explored the effect of PC1 loss in the condition by using mice that did not express Snord116, a gene that is located in the deletion region of chromosome 15q in PWS patients. These mice had less NHLH2 and PC1, and had similar hormone features as seen in PWS patients. Together, PC1 may be a target that can be manipulated to improve PWS treatment.
The investigators suspected that in PWS, the gene encoding PC1 is not activated correctly. Molecules that increase PC1 may have therapeutic potential. Rudolph L. Leibel is the senior investigator of the research.
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