New research suggests that individuals at risk for rare hereditary frontotemporal dementia should be tested for protective gene mutations.
A study published in the Brain recommends genetic testing for people with a family history of this rare form of dementia, focusing on variants that may offer protection.
Rare mutations in three specific genes typically cause hereditary frontotemporal dementia. However, experts have found that a common protective variant, TMEM106B, may delay or even prevent the onset of the disease.
This protective variant was initially identified in a large-scale genomic study and has been linked to resistance against conditions involving abnormal brain proteins. Despite its promise, the exact mechanism behind its protective effect remains unclear.
In the study, researchers analyzed genetic data from 518 individuals who had or were at risk for hereditary frontotemporal dementia.
They found that people who inherited one copy of the protective variant from each parent showed reduced brain atrophy, slower neurodegeneration, and milder cognitive decline.
Although there are currently no approved treatments for hereditary frontotemporal dementia, several potential drugs are being tested in clinical trials.
The researchers emphasized the importance of identifying protective genetic factors influencing disease progression. They believe this study could pave the way for future therapies that harness the body’s own genetic defenses.
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