The Awe of BRCA


Awe: the word has been pasteurized, connotized almost beyond recognition. But I suppose that’s what happens to all really powerful words. There’s a life-span to language; a generation if you’re lucky; a year if social media gets hold of it –likes it… But I think the ship of awe and all of its elegance went down quickly -even before Facebook or Twitter could sink it. It’s a shame because I am sometimes filled with it.

Different things inspire it in me; there’s no formula, no recipe for the appeal. I am sometimes simply stopped in my tracks, occasionally accorded an audience with grandeur. Majesty. Awe: the ineffable sublimated and instilled wordlessly into my head.

Most recently it was occasioned by genetics -unsurpisingly, because I understand so little of it nowadays. Since the genetic code was cracked and genes in all their undress were unfurled from where they ruled unseen in their closet, I have been a stranger in an even stranger land. I sometimes feel as a child must, confronted with an explanation that has not lost any of its initial magic. Any of its mystery…

And it’s not merely the unravelling of the genetic puzzle that intrigues me. I am scarcely moved by the knowledge -no, not the knowledge, the words- that on the short arm of chromosome 3, position 21 (have I got that right?), there exists a gene that makes a chemokine (a what?) that has an important role in the resistance to infection. I suppose I should care more, but I don’t.

The gene that has captured my interest is the BRCA gene. ‘BRCA proteins are required for maintenance of chromosomal stability in mammalian cells and function in the biological response to DNA damage’ -that from the Journal of Cell Science. In other words, they make sure that the DNA is okay, and deal with it if it is not… They repair damage and keep the cell growing normally. They suppress tumours; mutate the genes -cripple them- and the oversight is lost.

That much I knew, but what intrigued me was that the BRCA genes also occur in plants. They evolved about 1.5 billion years ago in whatever single-celled creature that was the common evolutionary ancestor to both animals and plants. The fact that these genes also exist in plants (most studied in a small flowering plant called arabidopsis, because in 1990 it was chosen by the National Science Foundation as the first plant that would have its genome sequenced) suggests they have an important and enduring function throughout the phyla and kingdoms. Plants, too, need to manage what happens to their DNA: they are rooted to a spot and can’t avoid recurring environmental stress factors that might damage it. As an example, some mutations in the arabidopsis BRCA allow certain cells to divide uncontrollably making the plant very sensitive to various forms of radiation. Sound familiar..?

Not all of the BRCA gene is the same in different organisms, of course: different domains, or portions, with different functions are preserved that seem to have an evolutionary importance relevent to each entity. Why re-invent the wheel? Nature fiddles with what it already has -what it knows. That mutations in this same gene should have such important effects on breasts and ovaries in humans is interesting, to say the least. All organs have DNA that is responsible for their growth and development; all DNA needs surveillance and repair; all organs have a cancer potential…  So was there a common ancestor somewhere whose BRCAs first assumed uber guardianship of breasts? Whose unintended mutations engendered these hereditary risks -a family, an individual..? Presumably stuff has to start somewhere.

And although arabidopsis doesn’t have analogous organs to humans, similar BRCA mutations do not seem to be as lethal, so I suspect that studying them may lead to some important insights. Maybe they already have: I can barely understand the way the studies are worded and find myself perusing only the Introduction and then skipping past the Results section to Conclusions where the authors discuss whatever ramifications they feel obtain from the experiment. I still read through a glass, darkly.

But somehow, the knowledge that we are in a sense all part of the same organism is epiphanous. Humbling… As Shakespeare (in Troilus and Cressida) has Ulysses say: “One touch of nature makes the whole world kin.”

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