I just tried to read the article listing the different genetic variants that have been associated with AMD. The complementary system in Age-Related Macular Degeneration: A review of rare genetic variants and implications for personalized treatment is declared the winner!
I admit defeat! Maybe I can study genetics for a decade and come back for a rematch.
I can sum up what I learned in about two sentences. The great majority of SNPs associated with AMD appear to be on chromosome 1 where the complement immune system is coded. SNPs cluster around the location of Complement Factor H although there are also large numbers of mistakes in the neighborhoods of Complement Factors i,2,3,9 and B.
The second thing I learned is this: the rare forms of AMD are coded for in other places. These ‘outliers’ are being studied in genetically-isolated groups such as the Amish.
Side note: The Amish are a closed, religious and cultural sect. Pennsylvania is a population center for the Amish. Therefore, here in Pennsylvania they live in association with us although not necessarily among us.
The Amish have all descended from an initial group of about 200 families. Because of the close inbreeding they suffer from a variety of genetically based problems such as dwarfism, Angelman’s Syndrome and several metabolic disorders. Being such a ‘natural laboratory’ for study of the founder effect, the Amish have allowed much genetic testing on members of their community. One of the conditions studied? Age-Related Macular Degeneration.
For more information on the Amish, check Wikipedia or your favorite reference.
OK, so it is not strictly info on AMD, but man does not live by vision loss news alone. I find that sort of stuff interesting. Hope you do, too.
And quickly back to the AMD stuff – because I only have about 200 words left – the Audacious Goals Initiative is still working hard to stamp out blindness. I found a better article on the mouse-zebrafish experiments on their page at the National Eye Institute. This article stressed how the Muller glia cells from the zebrafish had been able to be transformed so beautifully they were electrophysiological indistinguishable from interneurons cells. They had integrated well on both ends of the connection required and were sending signals to the brain. In other words, the zebrafish cells had changed and connected so the blind mice could now see.
Very preliminary work but exciting. The article cites a lot of problems such as: there are not quite enough zebrafish eyes to satisfy the demands of potential research. It might be best to find ways of coaxing regeneration of existing cells in our own eyes. Save the zebrafish!; you understand.
Just one more amazing bit of research and discovery that some day will eliminate Age-Related Macular Degeneration and allow people to see….I’m just glad there are people out there who are a helluva lot smarter than I am to do the research. Now, anyone want to explain the genetics to me?
written August 27th, 2017