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 appear "significantly associated" with AMD variants in at least 1 tissue type. This was not limited to retinal tissue.¹

One hundred and six! Really?! And 31 of those genes also overlapped with signals of other complex conditions like neurological and autoimmune conditions. In other words, a portion of the smoking guns for AMD have been implicated in other "crimes."¹

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 wonder whether the underlying pathology of AMD might be systemic in nature, from my perspective, it still looks pretty much like "a riddle, wrapped in a mystery inside an enigma," to quote Mr. Churchill. There are some genes, such as the ARMS2, that researchers believe have something significant to do with AMD. However, there is still much work to be done to determine how genetic information can be helpful to us as patients.¹

How useful was my genetic screening test?

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.

I could have told you that already. I was in the advanced stage of dry AMD, a.k.a. geographic atrophy, before doing the screening. Also, learning that 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?

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 is a real thing. It is basically, in my understanding, a switch that turns genes' expressions on and off.²

There is a theory that, as Homo sapiens, we have thousands of old, unused or turned-off genes stored in our "attics." Some of the related characteristics aren't expressed — in other words, we don’t actually have them on our physical bodies — because they have been turned off through epigenetics processes. The theory that epigenetic changes can be passed from one generation to the next has been contested, though.³

Flipping switches for the cure

Epigenetics 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.

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 switched-off genes in our "attics," and we really are not sure what they do, how do we know how this process impacts us as people with AMD? 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, I do not think it is ready for practical application at this time.