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Genetic Snippets

By Dr. Jim Ferguson

I’ve heard it said that in retirement you work even harder.  I’m not convinced of this yet, but it is different. As my readers know, I’ve left my traditional medical practice and “retired from Summit Medical Group.”  It was a big decision for me, and my patients.

When my partners and I put Summit together in 1994 it was a big deal in Knoxville.  I’ve often thought about the founding of our country where the signers of The Declaration of Independence pledged, “our Lives, our Fortunes, and our Sacred Honor.”  In fact, Benjamin Franklin told those fifty-six signers “we must all hang together, or assuredly we shall all hang separately.”  My signature on Summit’s founding documents wasn’t as large as John Hancock’s, and our founding in no way was as risky or momentous as those brave men signatories, many of whom lost their lives.

I’ve come to conclude that I’m not retired from medicine; I’m on sabbatical like a university Dom.  Perhaps if doctors were able to periodically step back from their practices they might be able to return with renewed vigor. Unfortunately, in my profession you either do it 110% or not at all, unless you take the attitude of not caring, and that was impossible for me.

I’m actually catching up on my medical journals now, between walks with Oakley and chores on our mini-farm.  However, there’s not a lot of intellectual stimulation watering and feeding horses and cleaning stalls especially during the Polar Vortex, the media’s latest example of global warming.  Yes, you read that correctly.  The noted scientist Al Sharpton and others have explained how this latest cold snap is all due to manmade carbon emissions and anthropogenic global warming.  Perhaps Sharpton’s lunacy stems from the moniker “Al” as in Al-Gore.  Perhaps the “Als” did not read the opinions of Time Magazine expert’s in the 1970s.  The “Polar Vortex” then was due to global cooling. My step-grandson, Noah asked why people believe that our record low temperatures are caused by global warming.  I explained that they call it climate change now to help us overcome using our eyes and brains.

The world is certainly different now than when I first began reading medical journals.  When I was on the teaching faculty of University Hospital I often challenged medical residents and students with the notion that, “the questions never change, just the answers.”  I remember one resident tilting his head quizzically much like a dog does when trying to triangulate the source of a sound.  I told him he should ponder my statement and the meaning will come to him.

Two medical articles recently caught my eye.  The first appeared in the American Journal of Medicine as an editorial overview of medical genomic technology.  The goal of the Human Genome Project was to define the human genome or the DNA (deoxyribonucleic acid) complement of humans.  Each of us has a unique combination of DNA though we have much in common.  The hope is that someday we can compare an individual’s DNA against the standard human genome and make predictions about disease or even modify an aberrant area of DNA (genes) and correct the defect and effect a cure.  Though tremendous progress has been made, we are not there yet.

The editorialist Dr. Joseph Alpert discussed the topic of epigenetics, or the external factors that modify or influence our DNA.  He and others have postulated that our DNA is the nature side of the human equation.  Could the nurture component of the equation be explained by environmental influences acting on our DNA to produce our uniqueness?  Alpert describes a paper by Scherrer, et al who found vascular dysfunction in children conceived by in vitro fertilization.  The thought is that the cell culture medium of these test tube babies perhaps influenced their DNA producing the measurable vascular anomalies.

A second paper in the New England Journal of Medicine summarized the mechanisms of Alzheimer’s disease which is a complicated disease with molecular and genetic mechanisms.  In 1901, Dr. Alois Alzheimer described the original case of “pre-senile dementia” in a fifty year old man.  Dementia was not supposed to occur prior to the “expected” age of senility!

We now know that this autosomal dominant form of Alzheimer’s disease is uncommon, and is thought to occur from defects in one of three genes resulting in the overproduction or aggregation of the B-amyloid protein.  The more common sporadic form of Alzheimer’s disease is thought to result from decreased clearance of the B-amyloid protein, possibly due to genetic variation in apolipoprotein E. This fat transportation protein enables lipids (fats) to circulate in our salt water blood stream.  Remember, oil and water don’t mix, but proteins will dissolve in water and are thus able to transport their attached lipid molecules through the body.  Humans have three varieties of the E protein (2, 3, and 4).  APO E3 is most common and confers a standard risk for dementia.  E2 is actually protective of the brain, but the E4variety is associated with Alzheimer’s disease, but no one knows why.

We humans still have a lot to learn.  None of these arcane medical issues were known when I graduated from medical school in 1975, so I’m still learning.  In fact, today I relearned that little boys are made of “snips of snails and puppy dog tails.”  Oakley is different from my two daughters, who were made of “sugar and spice and all things nice.”  I don’t need a genetic analysis to see genetics at work as he stomps through puddles and has to have a ball in his hand.  And the learning goes on…

 

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