Two groups of neuroscientists have uncovered a mutation that can cause frontotemporal dementia (FTD). The discovery may help to resolve confusion over the disease's underpinnings - another mutation is already known to cause the condition, but not all sufferers have this genetic defect, which prompted researchers to look for a secondary cause.
Mutations in a gene called progranulin, which encodes a growth factor, can cause FTD, report research teams led by Christine Van Broeckhoven and Mike Hutton in two papers published online in Nature. The condition, the second most common form of dementia among under-65s, impairs memory, personality and may also affect movement.
Previously, mutations in a neighbouring gene called microtubule-associated protein tau (MAPT; both MAPT and progranulin are situated on the same chromosome) was shown to be associated with some, but not all, cases of FTD. The discovery of another mutation that leads to the disease suggests an alternative mechanism in those patients who do not show MAPT mutations.
Mike Hutton (Mayo Clinic College of Medicine, Jacksonville, FL, USA)
Christine Van Broeckhoven (University of Antwerp, Belgium)
Articles available online:
Van Broeckhoven paper.
(C) Nature press release.
Message posted by: Trevor M. D'Souza
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