Polar Bear

Polar Bear
My Boy

Monday, September 20, 2010

Gregor Mendel and his peas

Once, thousands of years ago, there was a cool monk named Gregor Mendel, who discovered much about certain diseases and inheritance just by looking at the color and texture of peas in his holy garden.

See, what are now termed 'Mendelian diseases', come about due to mutation in ONE gene.  These are rare diseases, but very easy to diagnose-via a genetic scan for example.  Some examples are cystic fibrosis and sickle-cell anemia.

Thousands of years later, my uncle was 50, exercising in the gym that he frequented regularly.  In the middle of a set of sit-ups, he had a massive cardiac arrest, and died on the mat.  Even Monk Mendel would have been dumbfounded at my healthy uncle's death.

See, to this day we don't know what killed my uncle, beyond the intense fibrillation, then abrupt and permanent stopping of his heart.  He was not overweight, and had never been diagnosed with heart problems.

Today I am a cardiovascular scientist, and have learned alot about cardiovascular disease in my travels.  The most important piece that I want to share with you today is that cardiovascular diseases are 'Complex Diseases'.  Unlike Mendelian diseases, Complex diseases cannot be pinpointed to a mutation in ONE gene, in fact they initiate and escalate through a variety of mutations and/or environmental factors.

On the good side if you are lucky and have just one of these mutations, it doesn't ensure you to get a heart disease, such as early onset and fatal heart attacks.  However, while EACH of these mutations account for at least 5% of increased risk or so individually, they add up-quickly as do many slices in a pie.  More and more of these risk factor-inducing mutations are discovered every year. 

So if you have many of the below mutations and/or factors, your odds greatly increase for developing cardiovascular diseases.

Here a just a few:

Being a man
Being older
Family history of heart disease
Post menopausal
African American, American Indian, and Mexican American

High LDL cholesterol
Low HDL cholesterol
High triglycerides
Physical Inactivity
Obesity-more than 20% over ideal body weight
High C-reactive protein (a marker of inflammation in the body)
Stress or Anger
Long QT syndrome
Marfan Syndrome

Mutations in:
Apolipoprotein E
Apolipoprotein B
Renin-Angiotensin System
Kallikrein System
Nitrous Oxide System
Membrane (Ion) Channels
Cardiovascular Peptide
Take at look at that list-how many of these things do you have?  Or at least know about?

Then look at them all and think how many are probably induced by being fat in the first place?

In fact, current research indicates that obesity ALONE is a risk factor for cardiovascular diseases because it initiates so many other risk factors...

So while my upfront goal is to be a size 6, in actuality eliminating my obesity will significantly reduce any chance I have of being a heart attack/stroke etc statistic.

Many people know being fat is 'bad' for your heart or exacerbates your high blood pressure or high cholesterol and gets you an uncomfortable lecture from your doctor... 

However I hope that by breaking it down and showing you the far-reaching tentacles of obesity ALONE affecting all the heart risk-factors this would not only serve as another impetus to lose weight, but to maintain your healthy choices following your loss-to live better, stronger, and longer.  So you don't end up on a cold stone slab after a round of sit-ups.


Angie said...

When it comes down to it the ultimate goal of weight loss is about health. The rest seems like fluff in view of a post like this.

I am always wanting to know *why?* Telling an overweight person they have to lose weight, or risk a heart attack often just seems like a lecture (true as that statement is). Knowing the facts behind the statement really is helpful. Thanks for the information.

Motivated Mama

Sue said...

Gosh you meet people at the right time in your life don't you?

Not just that we are all currently on the weight loss challenge but also because my hubby is about to, on Monday go in for his Wolfe-Parkinson-White Syndrome and have that extra sucker zapped. Only now, the hubby is getting slightly worried about it. Tell me, there is NO risk for this operation is there that he may not come out of the hospital? They don't even put them to sleep I think. Although he will be in there for 2 days.
I can't believe that your post today of all days, of all weeks is about cardiovascular diseases.

Lanie Painie said...

Sorry about your uncle, of course.

This information is fascinating. How do we know if we have some of those deficiencies? If we have heart disease in our family should we be tested genetically to find out what risk level we're at?

I have a lot of questions.

Waisting Time said...

I am at risk. My dad died of coronary thrombosis in his early 50s. I take medication for familial high cholesterol (every member has it) and have that even when I am at my thinnest. I take a full aspirin for my formerly high C-reactive protein. And cross my fingers.

Thanks for the informative post.

And, I gave you a blog award today:)

Polar's Mom said...

Angie-I'm glad you liked the post-I worried it would be boring to most people. Most people I get into discussions with about my work glaze over in about 30 seconds flat.

Sue-While I always recommend you ask your cardiologist, I know a bit about WPW. My father also has it. Furthermore, I know that sudden death from arrhythmias related to WPW is extremely rare. And I think you mean your husband is having his Bundle of Kent ablated via catheter? I understand the success rate for this procedure is VERY high and the risks VERY low. I would definitely play your odds in Vegas, if that helps you. There is always a low risk of him not coming out as there is with anyone undergoing any procedure, but I would guess that your odds to have a car accident to the same end on the way to the hospital is higher. I'll keep my fingers crossed for you and hope to hear how he does!

Lanie-you would have to get your genes screened. Sometimes if you can get into one of the big heart studies, they will run panels on your genome. But the big connecting factor, that when present will skyrocket one's risk, and when it is gone will drop one's risk-is obesity. Obesity is the fusebox to many other factors like diabetes, high blood pressure, high cholesterol etc, and is probably the easiest to change, whereas gene therapy (turning a gene on or off) is still sometime away.

Polar's Mom said...

Hey Waisting Time-give us time, we are working on the familial hypercholesterolemia and CRP! I must say though, the fact that you KNOW you are at risk, puts you eons beyond most people. Thank you for replying, and thank you SO much for the award!!! Yay!

Bethanny said...

I am sorry about your uncle! That is terrible!!!
Can I ask you one question? What if the people in your family that had a heart attack, suffered it because they ate terrible, ie fried EVERYTHING. Does that still put you at risk?

Lanie Painie said...

Workin' on the obesity thing, just worried about for my kiddo with the genetic factor.

Polar's Mom said...

Bethanny-If the fried food lead to atherosclerosis and clots=heart attacks, then you are fine (if you aren't eating that crap obviously). But if they have a mutation, say in their liver that doesn't allow them to clear that fatty food-induced cholesterol as well as someone else might, then that could go to you via inheritance, too. Does that make sense the way I wrote it or just make sense in my head? ;-) But in the end-fried food=fried heart.

Lanie-Gotcha. There are several longterm studies tracking teens-you could check with your regional American Heart Association chapter to see... But since genetic therapy isn't yet available, don't worry about it too much yet. Hopefully by the time your kids are 20 we will have better scans available to determine predisposition for early onset myocardial infarction. In the end though, since is it a complex disease due to many issues/genes combining (other than the hammer that is obesity), and many of the factors are treatable, having just one mutation shouldn't escalate anyone to a heart attack. But what a great mom you are to be concerned! :-) Lucky kids.