Scientists from the University of Virginia and the National Institutes of Health have identified a previously unknown structure within human cells, called the gemifusome. This discovery was published in Nature Communications.
The gemifusome acts as a 'sorting platform' inside the cell, helping to organize and process cellular material. Dr. Seham Ebrahim, who led the research, stated that this is like 'discovering a new processing center inside the cell, whose existence we did not even suspect'.
This finding is particularly significant for understanding rare genetic diseases like the German-Pudlak syndrome, which causes albinism, vision problems, and bleeding disorders. Researchers believe that disruptions in the gemifusome's function could be a factor in various related disorders.
Using cryo-electron tomography, researchers were able to 'freeze' cells and obtain detailed images of the new organelle. This method allowed them to observe how the gemifusome appears and disappears as needed.
This discovery opens new avenues for understanding and treating rare genetic diseases, potentially leading to more effective diagnostic and therapeutic approaches.