Gen apa yang mereka buktikan menghubungkan ALS dan demensia frontotemporal?

Researchers Rosa Rademakers and Bryan Traynor identified an expanded repeat in the C9orf72 gene as a shared genetic cause behind both amyotrophic lateral sclerosis, a muscle-wasting disease, and frontotemporal dementia, a form of dementia affecting personality and language. Discovering that the same faulty gene drives both conditions helped unify two diseases long studied separately and opened new paths for diagnosis and targeted treatment.

BRCA1 is a gene associated with increased risk of breast and ovarian cancer, and APOE4 is linked to a different, more common form of dementia, Alzheimer's disease — neither is the gene connected to ALS and frontotemporal dementia in this 2026 discovery.

Because the same mutation underlies both diseases, a treatment developed to target the faulty C9orf72 gene in one disease could potentially be adapted to help patients with the other, a promising example of how understanding shared genetic roots can accelerate treatment for multiple conditions at once.