Genetic Rant & Roll – The Miniseries: Part 3

First the disclaimer: I am not a doctor or a biochemistry or a geneticist. Do I know what I am talking about? Hell, no! But I got this chart that says I have eight, really crappy, five moderately crappy and two decent genes and I have no idea what any of these 15 pairs of genes does. Trying to find out.

Just remember a little knowledge can be a dangerous thing….especially when it comes from someone who does not know what she is talking about!

Our first gene pair is ABCA1. ABCA1 is associated with macrophages, or ‘big eater’. Greek like Latin always makes things sound much cooler than they sound in English. Macrophages are part of the immune system and ‘eat up’ things that should not be in your system. (I have asked a medico whose wife I know to explain the complementary immunity system to me in English words of five or fewer letters. I will let you know when I understand it, but I think there is a connection here.)

Anyway, ABCA1 moves fats from the inside of the cell to the outside of the cell. Sounds like sort of a cellular level garbage man to me, or maybe the teenage son taking the garbage to the curb would be a better analogy.

Once the fat is outside the cell – or on the curb in our analogy – our ‘garbage man’, a protein manufactured by the APOA1 gene, comes around to pick it up. I am not sure the status of my APOA1 garbage man. I did not get that one in the report. However, if the fats are not getting to the ‘curb’ we can expect them to build up In the cell. Although my source – the Genetics Home Reference – does not say this, I think this is related to drusen.

I have a moderately crappy APOE gene pair. My guess is APOE is a brother or cousin to APOA1. The APOE gene produces proteins that bind with fats and carry these fats from the cells and through the bloodstream. Perhaps the analogy here would be the garbage truck. People with good copies of the APOE gene have fancy, self-contained garbage trucks to transport the fats. Nothing flies out of them into the bloodstream ‘street’. APOE is one of my moderately crappy genes so my garbage truck may be a dump truck. Things sometimes fall out. People with really crappy APOE genes have garbage flying off all of the time.

If your garbage is fat and your street is your bloodstream, all sorts of cardiovascular problems can happen because of substandard transportation. Fortunately, even with one bad copy of the gene, my cholesterol is good. Maybe I avoided that problem. However, with crappy copies of the APOE gene I discovered I MAY have an increased risk of developing Alzheimer’s. Happy, happy, joy, joy. Just what I needed to make my day! [Lin/Linda here: we’ll discuss this more in coming pages because I, too, have the same genotypes for APOE & we both have a parent who had a form of dementia so this is important to us.]

So those are the first two genes on my list of 15. In my analogy – or perhaps it is a metaphor – I have a lazy kid who is supposed to be taking the garbage out but doesn’t, an unknown quality as a garbage man to pick it up and a garbage truck that loses things from its load. My inefficient disposal system means that lipids – affectionately known as eye poop in these pages – get left behind and pile up. Not sure if I am anywhere near being correct but I sort of like the explanation. Make sense to you?

Next up: ARMS2

Next: Genetic Rant & Roll – The Miniseries: Part 4

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