Raphael Thys
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Scientists studying a Colombian family with a devastating inherited form of Alzheimer’s have discovered a genetic oddity that appears to delay the onset of symptoms by five years.
This finding opens new avenues for potential treatments and offers hope in the fight against this mind-robbing disease.
“It opens new avenues,” said neuropsychologist Yakeel Quiroz of Massachusetts General Hospital, who co-led the study published on Wednesday.
“There are definitely opportunities to copy or mimic the effects.”
Alzheimer’s: Search for genetic protection
A few years ago, scientists studying a large Colombian family with early-onset Alzheimer’s discovered an interesting case. Aliria Piedrahita de Villegas, a member of this family, defied her genetic fate.
Her relatives usually developed Alzheimer’s symptoms in their 40s. However, Piedrahita de Villegas only had mild cognitive issues when she reached her 70s.
The reason for her resilience was a rare genetic variation. She had two copies of an unusual gene called APOE3. This gene had a specific mutation known as Christchurch. This rare genetic setup appeared to protect against Alzheimer’s, significantly delaying its start.
Inspired by this finding, Quiroz’s team conducted a large study. They tested over 1,000 extended family members. The researchers identified 27 individuals carrying a single copy of the Christchurch variant.
The question was whether a single copy of this gene mutation could offer any protective benefit.
Delaying devastating Alzheimer’s
The study’s results were encouraging. Those who had one copy of the Christchurch variant started having problems with thinking and memory at around age 52, which was five years later than their relatives who did not have the mutation.
This significant delay provides a crucial window of opportunity in the battle against Alzheimer’s. The results indicate that even having some of this genetic protection can make a noticeable difference.
Dr. Eliezer Masliah of the National Institute on Aging noted, “It gives you a lot of comfort that modifying one of the copies could be really helpful,” at least in delaying the disease’s progression.
Some initial research is already looking into whether specific treatments could trigger the protective mutation.
Alzheimer’s a global crisis
Alzheimer’s typically strikes people over the age of 65, and age remains the most significant risk factor. The APOE gene, existing in three main varieties, has long been associated with Alzheimer’s risk.
The APOE4 gene variant raises the risk of Alzheimer’s disease. Recent studies found that having two copies of this gene can almost certainly lead to the disease in seniors. On the other hand, the APOE2 gene variant seems to lower the risk of Alzheimer’s disease. The APOE3 variant has been thought to have no significant effect on risk.
The finding that the Christchurch variant can protect against Alzheimer’s adds new complexity. Changes occur in the brain long before Alzheimer’s symptoms show up. These changes include the buildup of a sticky protein called amyloid. The buildup of amyloid in the brain leads to tangles of another protein called tau, which can harm brain cells.
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Earlier studies hinted that the Christchurch variant might slow down this harmful process involving tau. The study included brain scans from two individuals with a single Christchurch copy and autopsy analysis of four others who had died.
Quiroz stressed that there is still a lot to learn about how this rare gene variant affects Alzheimer’s disease. It includes how it affects the more typical form of Alzheimer’s that occurs in older adults. Tau and inflammation are among the factors under investigation.
Alzheimer’s disease affects more than 6 million Americans and an estimated 55 million people worldwide. Less than 1% of cases are similar to those in the Colombian family, where a gene causes the disease to start at very young ages. However, the study’s broader implications are significant.
The study was published in the New England Journal of Medicine.
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Sujita Sinha A versatile writer, Sujita has worked with Mashable Middle East and News Daily 24. When she isn't writing, you can find her glued to the latest web series and movies.