- Researchers say a gene variant appears to have helped delay the onset of early Alzheimer’s in a second individual who carried a genetic mutation that puts people at high risk of developing the disease.
- Most people with the genetic mutation develop Alzheimer’s before age 50 and die before age 60.
- The man in the new study retained full cognitive functions until age 67 before developing dementia and dying at the age of 74.
People who inherit a genetic mutation called PSEN1 E280A are virtually guaranteed to develop Alzheimer’s disease by their mid-to-late 40s.
However, researchers in a
Researchers say that a Colombian man who carried the PSEN1 E280A mutation but also had a rare variant of a brain protein involved in the RELN gene — retained his full cognitive functions until age 67. He eventually developed dementia and died at age 74.
Most carriers of the PSEN1 E280A mutation develop mild cognitive impairment by the median age of 44 years and dementia by 49 years.
The researchers say they found that the man’s sister, who had a similar genetic profile, also seemed to gain some protection, remaining cognitively sound until her mid-50s and didn’t develop dementia until age 61.
“People that have these genes don’t just have a risk factor. It’s causative, everyone gets it, usually in their 40s,” Dr. Joseph F. Arboleda-Velasquez, a study co-author and an associate professor of ophthalmology at Harvard Medical School in Boston, told Medical News Today. “It’s remarkable that [these individuals]… beat the odds.”
Arboleda-Velasquez was also involved in a
The…
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