A man’s rare gene variant may have shielded him from devastating form of early Alzheimer’s | Live Science


A newly discovered genetic variant protects against a particularly devastating form of early Alzheimer’s disease, raising scientists’ hopes of finding treatments that can prevent or slow the progression of this and other forms of the disease.

The discovery is only the second gene variant reported to protect against autosomal dominant Alzheimer’s disease (ADAD), a form of Alzheimer’s caused by an inherited genetic mutation. People with ADAD begin to show signs of dementia in their mid-40s and rarely survive past the age of 60, study co-author Dr. Joseph Arboleda-Velasquez(opens in new tab), a biomedical researcher at Harvard University, told Live Science.

The patient at the heart of the new study was a male member of a Colombian family that researchers have been following for a long time because they’re known carriers of the genetic mutation that causes ADAD. This man carried that gene, but instead of succumbing to early dementia, he remained healthy into his late sixties and developed only mild Alzheimer’s disease by age 72. He died at 73 years old of non-dementia-related causes.

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