Scientists have made a breakthrough after pinpointing a protein that may be linked to early-onset dementia, offering hope for the development of treatments and diagnostic tests for patients with the condition.
Frontotemporal dementia is a relatively uncommon form of dementia that causes problems in behavior and language. Unlike other types, which tend to develop after the age of 65, frontotemporal dementia often affects people between the ages of 45 and 65 as a result of degradation in the frontal and temporal lobes of the brain—the areas that control emotions, personality, behavior, speech and language.
In most neurodegenerative diseases, researchers have been able to pinpoint groups of clustered-together proteins in the brain that are associated with the disease. But for one in 10 cases of frontotemporal dementia, scientists had yet to discover this malicious molecule. Until now.
In a recent study, published in the journal Nature, researchers from the Medical Research Council Laboratory of Molecular Biology in Cambridge in the U.K. used cutting edge electron microscopy to analyze the brains of four patients with this type of dementia. Each brain contained protein clumps with the same atomic structure, but they weren't what was expected.
The clumps in question were formed from a protein called TAF15, a protein that usually plays a role in the transcription of our DNA.
"Before this study, TAF15 was not known to form amyloid filaments in neurodegenerative diseases and no structures of the protein existed," Stephan Tetter, one of the study's co-authors, said in a statement. "[This new technology] is transforming our understanding of the molecular pathology of dementia and neurodegenerative diseases more broadly by giving us insights that were beyond the capabilities of previous technologies."
Two of the patients whose brains were studied also suffered from motor neurone disease, which often goes hand in hand with frontotemporal dementia. Interestingly, in those two individuals, the TAF15 clumps were identified in brain regions associated with motor neurone disease as well as the frontotemporal regions.
"The presence of the same TAF15 aggregates in two individuals who had frontotemporal dementia and signs of motor neurone disease raises the possibility that TAF15 may contribute to both diseases," the study's leader, Benjamin Ryskeldi-Falcon, said in the statement. "We are now studying whether aberrant aggregated TAF15 is present in people who have motor neurone disease in the absence of frontotemporal dementia."
The scientists hope their discovery will help inform future treatments for these diseases, as well as enhanced testing capabilities for early diagnoses.
"This discovery transforms our understanding of the molecular basis of frontotemporal dementia," Ryskeldi-Falcon said. "It is a rare finding of a new member of the small group of proteins known to aggregate in neurodegenerative disease.
"Now that we have identified the key protein and its structure, we can start to target it for the diagnosis and therapy of this type of frontotemporal dementia, similar to strategies already in the pipeline for targeting the aggregates of amyloid-beta and tau proteins that characterize Alzheimer's disease."
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Pandora Dewan is a Senior Science Reporter at Newsweek based in London, UK. Her focus is reporting on science, health ... Read more
