From the first moment I discovered my dad
had been diagnosed with Alzheimer’s, it seemed like I was alone in this ugly
place. Even ones who had loved ones suffering in this way; even though people TALKED
about the disease, it felt for me like they did little more than mumble about the
experience. Not one to shut up for any known reason, I added a section to this
blog…
Every month, I’ll be highlighting Alzheimer’s
research that is going on RIGHT NOW! Harvested from different websites, journals
and podcasts, I’ll translate them into understandable English and share them
with you. Today: “Study
identifies gene variant as potential drug target…”
A study published by the National Institute on Aging, indicates that recent
research identified a gene in a huge family that codes for early onset
Alzheimer’s. A woman from a family whose “genetic data from a Colombian family
with more than 6,000 living members”…found that those “who carry a rare gene
mutation called Presenilin 1 (PSEN1) E280A, have a 99.9% risk of developing
early-onset Alzheimer's disease.”
While this is one of those “sad-but-true” stories, the woman in question
didn’t develop Alzheimer’s symptoms until she was in her seventies. Sad again,
and true…BUT…the members of her family who had the odd gene combination without
exception developed Alzheimer’s symptoms WHEN THEY WERE IN THEIR FORTIES.
It's a rare condition, and again, sad-but-true; but the research team
didn’t let the story lie. They tested her and found that where you and I and
all the rest of the humans in her family had a single gene called APOE3
Christchurch (APOE3ch) gene variant she also had two copies of it. She was the
only one – and she was the only one who didn’t have early onset.
What does this “magical gene” do? According to the study (gibberish
first, then I’ll translate the doctors) “…the APOE3ch variant may reduce the
ability of APOE to bind to certain sugars called heparan sulphate proteoglycans
(HSPG). APOE binding to HSPG has been implicated as one mechanism that may
contribute to the amyloid and tau protein deposits that destroy the brain.”
First, APOE stands for APOlipoprotEin.
The “lipo” part means “fat”. That’s the middle of this thing. It is a protein
associating with lipid particles, that mainly helps with the transport of fat between
organs blood plasma and liquids between cells called “interstitial” (just a
fancy word for “the place in between”). It’s a very important component of blood
plasma and it’s involved in fat production, conversion and clearance. All food
things. The problem comes when APOE accidentally hooks up with sugars called
heparan sulphate proteoglycans (HSPG). The research seems to point to this hook
up as suddenly stopping the APOE from moving the fats around and instead
helping to form plaques and tangle deposits you read about that eventually destroy
the brain of an Alzheimer’s patient.
OK – all that is
said and done. You maybe understand this line of research better.
At any rate, on to
an eerie happening in my own life.
I had a science
fiction story published in ANALOG about 20 years ago called, “A Pig Tale”. In
it, my main character is experiencing a crisis – but she doesn’t realize that
her father is as well.
In a really
strange turn of events, I wrote this story long before my father was diagnosed
with Alzheimer’s; even longer before I found out about it and became the secondary
caregiver for both Mom and Dad (they were in an assisted living facility, then
moved into Memory Care); I was the contact, transportation, and eventually the
one who arranged Dad’s funeral when he died a few years later than Mom, and
pretty much a different man than he was before Alzheimer’s began to whittle away
the personality that defined him.
So, if you’d like
to read the story, the link is below. If not, that’s fine. But I’ve been
thinking about doing another story set at the same time; different character
(maybe), but take a look at the issue from “the other side”, after making my
way through the experience my parents had.
Who knew that the
fictional drug in my story was going to be the object of a billion-dollar
search.
Story Link: http://theworkandworksheetsofguystewart.blogspot.com/2018/05/a-pig-tale-by-guy-stewart-analog.html
Image: https://www.meduniwien.ac.at/web/fileadmin/_processed_/e/1/csm_shutterstock_142671010_4683b6bf13.jpg
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