Genetic Rant & Roll -The Miniseries: Part 5

Back again on the genetic stuff. Next up is CFB aka complementary factor B. Also CFH, complementary factor H. We are still dealing with the innate, complementary immune system although CFB and CBH are in the alternative pathway. The alternative pathway – including complementary factors B and H – is said to be involved in regulating the immune system. I did not understand a lot of what I read but it sounded like CBH in particular is involved in dampening the immune reaction. Both CFB and CFH protect healthy cells by keeping the system from turning on when it is not needed. Back to the friendly fire concept here. Without the work of B and H, it would appear good cells may be targeted.

Once again the Genetics Home Reference gave me some good info. According to that source, those of us with crappy copies of the CFH gene can have up to a six-fold chance of developing AMD! Of course, my CFB and all three of my CFHs assessed were found to be high risk.

It may be my eyes are under attack and the enemy is…..me.

Looking at the other genes they screened, I discovered CFI is another gene that inhibits the complementary immune system. That was my second, low-risk gene. One of two. Yippee.

COL8A1 is related to collagen formation. I am not exactly sure how that got in there. LIPC is involved in fat transportation in the blood and TIMP3 is the one to interact with zinc. TIMP3 is also involved in host defense. LIPC is my only moderate risk gene of the three.

So, to summarize, it appears I have two problems inherent in the genes they tested. One is sloppy housekeeper. Fat transporters and containers are not doing the job. Instead of being safely transported out, lipids are piling up and making drusen. The second one is a problem with ‘friendly fire’. The good guys are being targeted as bad guys. There are other genes that are involved in AMD but if these are Arctic’s big 15, I would suspect you are having problems similar to mine.

What to be done about it? Since I already have geographic atrophy in both eyes, my answer pretty much has to be stem cells. For you who do not yet have atrophy, it is hoped genetic testing such as I had done will help you find out which problem to target. Clinical research is coming at the problem in many ways. One is sure to fit you to a g-e-n-e.

Next: Genetic Rant & Roll – The Miniseries: Part 6

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