Frontotemporal dementia (FTD) is a fatal, degenerative brain disease that is a common cause of dementia in people under the age of 60. Often striking people in their prime, FTD is characterized by a progressive degeneration of the frontal portions of the brain, the regions responsible for language and behavior. Over the course of the disease, FTD patients may lose the ability to behave appropriately, make judgments, communicate, and carry out daily activities. There are currently no approved treatments or cures for FTD.
The Progranulin Gene
We are focused on finding therapeutics for FTD caused by mutations in the progranulin gene (GRN). Dozens of disease-causing progranulin mutations have been identified, and most result in lowered levels of progranulin. Progranulin is primarily an endo-lysosomal protein. Current data suggest it is cleaved into smaller subunits, called granulins, in the lysosome, which likely are progranulin’s functional units. Not having enough progranulin protein eventually causes neurons in the frontal and temporal lobes to die. Understanding how exactly low progranulin levels cause neurodegeneration is a central focus of the Bluefield Research Consortium.