Why does retinoblastoma effect the eye first?

Question

I am doing a presention on familial retinoblastoma and I can't seem to figure out why it effects the eye first. It's a gene that is present in every one of our cells but upon mutation/deletion, the tumor first shows up in the eye. I've gone through quite a few research articles & websites but I am still missing that big of info. Any help would be greatly appreciated.

Answer 1

Actually, the retinoblastoma protein (and hence the gene Rb), and other similarly named tumor suppressors and oncogenes are often named in reverse. That means that when a patient with malignant retinoblastoma was found, his/her DNA was examined, and the mutation found was in a particular gene. Retrospectively, they named this gene retinoblastoma.

Mutations in this gene cause other cancers like lung, or bladder, or osteosarcoma, but it was first named retinoblastoma by whomever found it because it was first identified in a malignancy of the retina. It's not that it first shows up in the eye, it can "first show up" in other places, but the retina happens to be a place where this specific mutation causes cancer, and it happens to be a place where this mutation happens with some amount of frequency. I'm not sure if we can explain why or how this is the case.

Answer 2

Do we even know what that gene does when it is correctly present? If we don't, then we have no hope of actually explaining why the blastoma first shows up in the eye. It is just a fact of life that we don't yet understand.

If we do know what it does, then we make be able to make or guess at a partial explanation. Is it a gene that is only expressed in the eye? Does it code for building a rod or forming normal retinal tissue? Probably it is nothing so important, because someone who lacks such a critical gene would most likely be blind.

It is my guess that at this point we can only observe that the mutation or deletion causes retinoblastoma. We can't explain it. Note that even if we could, it would probably be an incredibly convoluted and technical discussion.

I am not a developmental biologist btw - these are just my thoughts.

Answer 3

Blastomas are a highly malignant form of cancer. Cancers are generally named for the part of the body they attack (lymphomas attack the lymph nodes, for example). Retino is a prefix that is associated with eyes (think retina).
I have never thought about why it attacks the eye first. My best guess is that it is in some way tied to the pigmentation in the eye, possibly activated by it, or possibly just copied at the end of the gene because of a mistranslation caused by the mutation/deletion.
Good luck with your presentation!

Answer 4

i have never heard of this before, but the retina (i think thats how you spell it) is something in your eye that helps you see. Maybe if you include the retina in your search phrase you'll get better information.

good luck