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A human race whose genetic science almost guaranteed that he would make grow Alzheimer ’s disease by his fifty has somehow made it to his mid-70s with nary a symptom .
The now-75 - year - old humanity , Doug Whitney , is one of only three people hump to have escaped their genetic destiny , dodge a rare form ofAlzheimer ’s diseasecalled dominantly inherit Alzheimer ’s disease ( DIAD ) . stimulate by several gene mutation , DIAD makes up less than 1 % of all Alzheimer ’s cases , and its symptom typically fix in between ages 35 and 55 .
A 75-year-old man’s genetics should have led to him developing early Alzheimer’s decades ago. But as of yet, he has no symptoms of the disease.
A newfangled field , published Feb. 10 in the journalNature Medicine , detail Whitney ’s case and pinpoints potential ingredient that may have shielded him from the neurodegenerative disorder thus far . One hypothesis is that his exposure to very mellow heat as a shipboard mechanic could have somehow contributed to this resiliency , co - lead authorDr . Jorge Llibre - Guerra , an adjunct prof of clinical neurology at the Washington University School of Medicine in St. Louis and co - first author of the study , told Live Science .
This report sum up to the handful of cases that are " potentially , a decisive source for understanding molecular mechanisms that can slow up or stave off Alzheimer ’s disease pathogenesis,“Dr . Michael Greicius , an Alzheimer ’s investigator at Stanford University who was not involve in the study , told Live Science in an e-mail .
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A “shocking” surprise
Whitney recite the research squad that he thought he was one of the few who had escaped the mutations that had caused so much DIAD in his kinsfolk . At age 61 — when Whitney first approached the researchers about enroll in a large run about DIAD — he show no signs of Alzheimer ’s disease , whereas his female parent and 11 of her 13 siblings had recrudesce the circumstance by the metre they were in their fifty .
DIAD is because of mutations in three cistron : amyloid precursor protein ( APP ) , presenilin-1 ( PSEN1 ) or presenilin-2 ( PSEN2 ) . The overwhelming legal age of people with DIAD only carry one of these mutations , although Llibre - Guerra said he ’s come across a few who carry more than one .
" Once you inherit some of these mutations , you have like a 99.99 % chance of developing the disease , " Llibre - Guerra said . That ’s why Whitney was " shocked " to get word that he carried a mutation in the PSEN2 gene that should have led to early - onset Alzheimer ’s , he added .
Now , at 75 , Whitney still has n’t developed symptom of the term , which makes him one of three mass known to have break away penny-pinching - certain DIAD , per the study .
To see Whitney ’s apparent protection , Llibre and his fellow worker used mastermind scan to wait for the telltale signboard of Alzheimer ’s — namely , unnatural protein cluster called amyloid - genus Beta plaques and tau protein tangles .
The accruement of amyloid - beta memorial tablet is an early footmark in the developing of Alzheimer ’s disease , come after by an aggregation of " maze " of tau protein . Evidence suggeststhe interplay between these two proteins is potentially what leads to cognitive decline , although thesemay not be the only gene at play .
Whitney ’s psyche turned out to be flooded with amyloid , but unlike in other DIAD patient role , the tau had stayed check within a humble section of the genius . These tangles were at the back of his skull , in his left occipital lobe .
This pattern adds exercising weight to the estimate that " if we forestall the downstream effects of amyloid - beta , we might hold up the onset of the disease , " Llibre - Guerra said . In other words , it seems like the chain response between amyloid and tau was somehow broken in Whitney ’s brain . " The question that we have is , what is forestall tau spread in this particular case ? " he add .
This reflection echoes what had previously been seen in another DIAD " escapee " who also had a mutation in the PSEN1 cistron , Jean - Charles Lambert , an Alzheimer ’s investigator from the Inserm Institute at the University of Lille who was not take in the study , told Live Science in an email .
Could extreme heat have been protective?
A few gene variants are known to protect against Alzheimer ’s . One example is the so - calledE2 allelomorph of the APOE gene , which is affiliate with a very down risk of developing the disease , Lambert said .
But the team did not find any of these known variant in Whitney ’s genetical makeup . Instead , they pinpointed several other variants that could be interesting to study in the context of Alzheimer ’s . These admit one variant spotted inGPCPD1 , a factor recently linked to Alzheimer ’s resilience . Another variant , set up in theCD33 factor , could warrant further research , Llibre - Guerra say , as it ’s involved in immune reply in the brain .
The scientists also come up high - than - normal levels of " heat - shock proteins " in Whitney ’s intellectual spinal fluid , the liquidity that soften the nous and spinal cord . Heat - seismic disturbance proteins aid protect the body from environmental stresses , such as utmost heat energy , and could be link to Whitney ’s time turn as a shipboard mechanic in boiling engine way , the team suggested .
" We recognize that these protein are involved in preventing misfolding proteins in the brain , " Llibre - Guerra said . Like origami , proteins must be folded in a particular way to oeuvre , and Alzheimer ’s is a disease in which this protein folding goes awry . " mayhap it ’s preclude more tau from being misfolded and spreading , " Llibre - Guerra propose , adding that this is " just a hypothesis " at this stage .
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For Lambert , this account is " highly risky , " as the evidence to support it is still very tentative . Greicius contribute that there are " numberless other potential explanations " for Whitney ’s resiliency against Alzheimer ’s , although this is an " interesting and plausible possibility . "
The team ’s genetic investigation was a " sane first depth psychology , " but it could have left " thousands of potentially protective strain unexamined on the carving - room floor , " Greicius added . And because this was a case study of only one person , it ’s take exception to identify a genetic discrepancy or environmental exposure that may have help oneself him , he said .
Still , Greicius aver , study like this one are " useful for generating novel hypotheses . "
This clause is for informational purpose only and is not meant to offer medical advice .
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