Genetic resilience found in a person predisposed to early-onset dementia could potentially lead to new treatments.
Electron microscope image showing an amyloid plaque and tau fibres in the brain of a person with Alzheimer's disease. Amyloid plaques are insoluble aggregates of beta-amyloid protein.Researchers have identified a man with a rare genetic mutation that protected him from developing dementia at an early age. The finding, published on 15 May in, could help researchers to better understand the causes of Alzheimer’s disease and potentially lead to new treatments.
When the researchers scanned his brain, they found high levels of the sticky protein complexes known as amyloid plaques, which are thought to kill neurons and cause dementia, as well as a protein called tau that accumulates as the disease progresses. The brain looked like that of a person with severe dementia, says study co-author Joseph Arboleda, an ophthalmologist at Harvard Medical School in Boston.
The fact that the man stayed mentally healthy for so long despite the many amyloid plaques in his brain suggests that Alzheimer’s is more complicated, says Yadong Huang, a neurologist at the Gladstone Institutes in San Francisco, California. He suggests that there could be multiple subtypes of Alzheimer’s, only some of which are driven by amyloid. “We do need different pathways to really finally deal with this disease,” he says.
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