In a new study, scientists have discovered new genetic factors that may increase the risk of dementia with Lewy bodies and frontotemporal dementia.
Scientists at the National Institutes of Health (NIH) have discovered new genetic factors that may increase the risk of dementia with Lewy bodies and frontotemporal dementia. To do this, the group uses a unique approach to identify large-scale changes in the DNA code, called structural variants.
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The team used algorithms to map large-scale changes to the DNA code, called structural variants. Through this technique, it was possible to discover a new variant in the TCPN1 gene, associated with a higher risk of developing dementia with Lewy bodies.
The variant is already known to be a risk factor for Alzheimer’s, which suggests it may also play a role in other types of dementia. The team also examined 50 genes linked to inherited neurodegenerative diseases and confirmed two well-established risk factors for frontotemporal dementia changes in the C9orf72 and MAPT genes.
To make these findings more accessible to the scientific community, the researchers generated a catalog based on their analysis data and created an interactive application to allow scientists to study their genes of interest and identify which variants are present in the two cases.
Lewy body dementia
Lewy body dementia is the progressive loss of mental function. The alpha-synuclein protein accumulates abnormally in the brain in clumps. It is these clusters of protein particles that we call Lewy bodies. In the condition in question, this cluster reaches the nerve cells.
People with dementia with Lewy bodies vary between alertness and drowsiness and may experience hallucinations and difficulty moving.
frontotemporal dementia
In turn, frontotemporal dementia affects the frontal and temporal regions of the brain. It is a progressive and degenerative condition that primarily affects cognitive and behavioral functions. It is caused by the degeneration of nerve cells in these areas of the brain with the involvement of the tau protein.
Source: National Institutes of Health via Science Blog; mayo clinic
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