Thursday, April 06, 2017

April 6, 2017--Human Mutations

I have been thinking recently about my hand.

My right hand since it has developed a tremor. My doctors, particularly my neurologist is attempting to figure out its cause and to suggest ways both natural and medicinal to calm it.

I tell him I have come to like it. It to me is a sign of animal vitality, a kind of second heart that trembles rather than beats.

He tells me I'm crazy.

I tell him I have another doctor for that. And tiny crumbs of klonopin.

We both laugh. I need to laugh.

But the thinking about my hand has me thinking about human evolution. What a wondrous thing the human hand. How did it evolve from a fish's fin to become, over 600 million years, this most wonderful of appendages?

Slowly and, considering its complexity and anatomical differences from our aquatic ancestor, it required at least millions of steps, imperceptible mutations. Some led our proto-hand down some not helpful branches to so-called "bad mutations" that the struggle for survival between the fit and less fit were resolved in bloody ways.

How many modifications were needed to bring us, it, to this remarkable point? How many countless rolls of genetic dice?

And, as I ponder my trembling fingers, I wonder what else still might be occurring. Is Nature's job completed or are there still more surprises awaiting? Some of which might turn out to be beneficial?

Perhaps a sixth finger? Would we have use for that? Would one more digit make us less vulnerable, additionally able to survive? Perhaps a second thumb? Sprouting next to the pinky that also would be opposing and in tandem with our current thumb make us more powerful and adaptable?

Do geneticists have their eyes on mutational developments underway about which we should be concerned . . . or hopeful?

Surely we cannot be at the end of the evolutionary road.

And so with my fluttering hand I did some research. And found there are mutations occurring that we could well do without--the gene called Titin, for example, that can trigger heart failure--as well as others that hold the promise of progress.

For example, Apolipo-protein AI-Milano. Surely you've heard of this.

In case not, here is the detail from Adam Lee's "Four Beneficial Evolutionary Mutations Underway Now"--
Heart disease is one scourge of industrial countries. It's the legacy of an evolutionary past which programmed us to crave energy-dense fats, once a rare and valuable source of calories, now a source of clogged arteries. But there is evidence that evolution has the potential to deal with it. 
All humans have a gene for a protein called Apolipo-protein AI, which is part of the system that transports cholesterol through the bloodstream. Apo-AI is one of the HDLs, already known to be beneficial because they remove cholesterol from artery walls. But a small community in Italy is known to have a mutant version of the protein, named Apolipo-protein AI-Milano, or Apo-AIM for short. 
Apo-AIM is even more effective than Apo-AI at removing cholesterol from cells and dissolving arterial plaques, and additionally functions as an antioxidant, preventing some of the damage from inflammation that normally occurs in arteriosclerosis. People with the App-AIM gene have significantly lower levels of risk than the general population for heart attacks and stroke, and pharmaceutical companies are looking into marketing an artificial version of the protein as a cardio-protective drug. 
There are also drugs in the pipeline based on a different mutation, in a gene called PCSK9, which has a similar effect. People with this mutation have as much as an 88% lower risk of heart disease.
I know that with my hand nothing beneficial is going on that, in evolutionary terms, is "adaptive." But my doctor is happy that I am dealing with it so well. Or about which I am, in my more familiar mode, in denial.

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