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Genetics, Epigenetics, and Cures for Macular Degeneration

I always knew that age-related macular degeneration is a multi-gene phenomenon, but this is ridiculous! A study published in Scientific Reports suggested there are up to 106 genes that could contribute to the development of AMD.1

106! Really?!? And a minimum of 31 of those genes are also associated with other problems. An example of other types of conditions is autoimmune disorders. Another one would be metabolic disorders. In other words, the smoking guns for AMD have been implicated in other “crimes.”

An inherited condition

My father and I suspect his father had AMD. I used to be sure I “got” it from them. However, there is a history of autoimmune disease and metabolic disorders in my mother’s family. Could it have been “bad” genes from my mother that “closed the circuit” and activated my eye disorder?

I have no idea. While Strunz and his colleagues of the International AMD Genomics Consortium are working on determining exactly what genes underlie our condition, from my perspective, it still looks pretty much like "a riddle, wrapped in a mystery inside an enigma," to quote Mr. Churchill.

Likely culprits

Of course, there are some genes, such as the ARMS2, that we are reasonably sure have something to do with AMD. Right now, though, the state of the art is such that that information in and of itself is not going to do you and me, AMD patients, a great deal of good.

The perfect candidate

Several years ago, I was given a complimentary genetic screening test targeted at telling me what my risk was for AMD. It screened for about 12 different genes believed to be associated with the condition. According to the test, I was a perfect candidate for the disorder.

How useful is this information really?

To begin with, I could have told you that already. I was in advanced, dry AMD, aka geographic atrophy before doing the screening. Also, the information I had a number of “bad” genes was interesting but not practical to my life. My analogy would be an amateur astronomer being able to name some of the stars in the sky. All very interesting, but what can you do with the information?

Medical science is not at the point we can convert the information into anything we can use.

Is epigenetics the solution?

Having some rudimentary understanding that there is relatively little understanding allows me to have a healthy - dare I say even robust? Yep, I dare! - skepticism for some of the “miracle cures ” that are being foisted on us. For example, epigenetics.

Epigenetics and vestigial traits

Epigenetics is a real thing. It is basically, in my understanding, a switch that turns genes on and off. As Homo sapiens, we have thousands of old, no longer used genes stored in our “attics.” Some of the related characteristics don’t express - in other words, we don’t actually have them on our physical bodies - because they have been turned off through epigenetics processes. When the occasional baby is born with a vestigial tail, that is a failure of the epigenetic process... or at least I think it is. I know my father and I both have marks we have been told are vestiges from our long, long ago ancestors that had rows of teats.

Flipping switches for the cure

Anyway, moving right along, epigenetics is involved in switching genes on and off and altering their expression. It is a relatively new science, and while we are reasonably sure epigenetics is a way for environmental factors to shape our biology, we are now only beginning to explore how that process works.

All by way of saying... if we have no strong clue which of 106 genes have gone “wonky” in each of us and caused our problem and if we have thousands of no longer used genes in our “attics” and we really are not sure what they do. We are also unsure how the interaction between the environment and epigenetics factors really does work. Would you really want somebody in there willy-nilly throwing switches?

Yep. Thought so. I don’t want that either.

There is a lot of tantalizing new science - good science - out there. However, it is not ready for practical application at this time. Be careful of those who would try to tell you it is.

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