App Mutation

Newcomer introductions, personal anecdotes, caregiver issues, lab results, and n=1 experimentation.
NF52
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Re: App Mutation

Post by NF52 »

Cat111 wrote:APP GENE AND ALZHEIMERS
SNP rsID Minor Allele Genotype Phenotype
APP rs128648 C CC +/+
APP rs2000989 C TT -/-
APP rs2070655 T TT +/+*******
APP rs2226332 G AA -/-
APP rs2829973 G AA -/-
APP rs2830006 T CC -/-
APP rs2830008 C TT -/-
APP rs2830051 C TT -/-
APP rs2830076 T CC -/-
APP rs373521 A AC +/-
APP rs380417 C CT +/-
APP rs383700 A AG +/-
APP rs3991 A CC -/-
APP rs454017 A AC +/-
APP rs462281 G AA -/-
APP rs63750066 T CC -/- You have C/C; the "common" and non-risky variant: https://www.snpedia.com/index.php/Rs63750066
APP rs6516727 G AA -/-
APP rs7276036 A GG -/-
APP rs7283136 C TT -/-
APP rs9981258 T GG -/-
I think this is the gene Recode referenced. My Recode Doc wants $480.00 to discuss this with me. Does anyone have any clue? Thank you.
Hi Cat111,

I wonder if the ReCode doctor explained that everyone has Amyloid Precursor Protein (APP) genes . Only rarely do they have the variants associated with Early Onset Alzheimer's disease (EAOD). In almost all of the cases of APP variants linked to Early Onset Alzheimer's disease, there is a family history of diagnosis of Alzheimer's before the age of 60 in one or more relatives.

Just like everyone has two ApoE alleles; yet only ApoE 4/4 is considered to confer high risk, while ApoE 3/3 is neutral and ApoE 2/2 is very low risk.

Here's what SNPedia has to say about the function of the APP genes:
The APP gene encodes amyloid precursor protein, an integral membrane protein expressed in many tissues and concentrated in the synapses of neurons. Its primary function is not known, though it has been implicated as a regulator of synapse formation, neural plasticity and iron export.
SNPedia: APP

APP genes that help synapses communicate across your brain and give your brain "plasticity" to recover from injury must have developed because they serve important needs. While some mutations may have developed that contribute to late-onset Alzheimer's, it's not clear how strong the association is, especially in ApoE 4 carriers. I was in a clinical trial (Generations) to see if suppressing APP function would prevent MCI or AD in people with ApoE 4. That trial and other APP trials of BACE inhibitors were stopped in 2018 and 2019 due to negative effects in some people on cognition and/or liver function. That's an example of how a gene can control multiple healthy functions, even if it can also contribute to amyloid beta and Alzheimer's.

The same page linked above lists all the APP SNPs that SNPedia views as having been associated with a risk of AD. Only ONE of those was on your results: CC is the "common" and normal variant with no risk! So unless you have a strong family history of early-onset AD, I'm not sure if you need the ReCode doc's interpretation. IF you DO have that history of Early Onset before age 60, there are research centers seeking to help family members identify any risk, provide support groups and possibly participate in clinical trials that may be more helpful to you.
4/4 and still an optimist!
Cat111
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Re: App Mutation

Post by Cat111 »

Thank you! I was wondering why they put App mutation as a risk factor on my recode report.....must have been mistake.
Cat111
ApoE 4/4
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