welcome to the organic green doctor blog

i am a family physician who was diagnosed with
early mild cognitive impairment(mci) amnestic type on december 21, 2010
this is a precursor to alzheimers disease
because of this diagnosis i have opted to stop practicing medicine
this blog will be about my journey with this disease
please feel free to follow me along this path
i will continue blogging on organic gardening, green living,
solar power, rainwater collection, and healthy living
i will blog on these plus other things noted to be interesting

Friday, May 19, 2023

alzheimers news-can a mutation give us a treatment


the answer

there is early onset alzheimers 
it represents less than 1% of the cases of alzheimers
it is caused by one of a few genes
one is called presenilin
you get the gene you get early onset alzheimers
its usually diagnosed in the late 40s to mid 50s
most die before the early 60s
some even younger

there is late onset alzheimers disease
it is associated commonly with the apoe 4 gene
if you have the double version of the gene you dont necessarily get alzheimers but your risk is increased 10-20 times

amyloid builds up first in alzheimers disease which kill brain cells
later tau protein unravels and causes tau tangles which also kills brain cells
also inflammation sets in which also kills brain cells

where tau tangles are in the brain is where the alzheimers is spreading
the symptoms you see will be based on what part of the brain is affected

one of the first things to happen is the loss of smell
that i have now
the area of the olfactory center gets hit early on
the entorhinal cortex is where alzheimers starts first
tau tangles there will show up on a tau protein scan in high numbers

in colombia in the mountains there is a large family of about 6000 inhabitants that have the highest incidence of alzheimers in the world
these folks get the early onset gene called presenilin
they get hit hard by the disease

historically a spanish conquistador introduced the gene into the population centuries ago
he was identified by dna analysis
since the large population is so isolated the incidence in the population has remained high

this large family has been extensively studied for over 20 years
using memory testing genetic studies mris amyloid pet scans and tau pet scans
several important anti amyloid treatment studies have been done on them
showing that anti amyloid treatment doesnt work in early onset alzheimers

in 2019 a women who had the presenilin gene did not get early onset alzheimers 
this doesnt ever happen
in her mid 70s she was mentally intact
she was found to have  another mutation on her apoe 4 gene called the christchurch mutation 
it was somehow protecting her from getting alzheimers disease

then recently a man who had the presenilin gene also didnt get alzheimers disease at a young age
he apparently did in his 70s about 20 years later

what they found on him was he had the presenilin gene
he should have been destined to die probably in his 50s from alzheimers
he didnt
it was found he had a mutation of a gene that affects the entorhinal cortex
where alzheimers disease starts

this gene is called the reelin colbos gene
it apparently competes with the apoe gene

this patient had been studied extensively for years with scans
he had a lot of amyloid in his brain but had little tau tangles in his entorhinal cortex
where alzheimers starts

there should have been a lot of tau in his entorhinal cortex
there wasnt much

maybe scientist are thinking if they can use what they have learned from this patient they could develop some treatment using this gene site to treat alzheimers early on 
could this be a way to treat alzheimers before it starts

i see some excitement in the alzheimers world over this study

scientists think the reelin colbox gene provides some extreme resilience and protection against alzheimers symptoms
can science imitate nature by developing a treatment that mimics this protective features

could this gentlemans involvement in a clinical trial years ago lead to a treatment for alzheimers disease


this is why one does clinical trials
this is why i have done alzheimers studies for the last 13 years
they have 13 years of memory testing mri scans amyloid pet scans tau protein pet scans spinal fluid analysis extensive blood testing my whole genome to look at
then i so far have had 30 infusions of the aduhelm which should have removed most if not all of the plaque from my brain
sometime in the future 
some neuropathologist will hold in his hand my brain
he can look at it and look at my old tests and see how accurate all this is
he will have all my medical records from these studies
a big ole pile of records to look at

hopefully they will learn from my case

i wont benefit from any of  this above but my younger relatives will

i have thought about my case a lot since i am heading towards several days of testing at ucla
nearing the end of my study with aduhelm
a year from now when i finish i will be looking to decide where to go next

i think that since i was accidently diagnosed so early when i volunteered to be in the normal control group of the adni 2 study that i was barely starting into the mci range
the stage before the beginning of alzheimers

since i was so early that everything i have done has probably had a greater effect than had i started later in my course with this diagnosis

i was started early on aricept or donepezil
this has shown to be effective longer if started early in slowing down symptoms
i have been aggressive with my weight my diet my physical activity my mental activity my social activity 
i have been aggressive in controlling my cholesterol and blood pressure
i ahve been aggressive in getting sleep eg i only sleep 5 hours at night but compensate with an afternoon nap
i try to avoid stress in my life
i dont smoke and drink alcohol 
i use to drink a glass of wine at night but since i was sick with covid 3 years ago i cant tolerate it
i generally am happy with my life

oh and i have had those 30 infusions of aduhelm that has removed all my amyloid in  my brain

adding all that up thats why i havent fallen off the alzheimers cliff yet

today its aduhelm infusion #30 at ucla  
i have 13 more after that
we will see how all of this works

the organicgreen doctor

No comments:

Post a Comment