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Genetics: A gene of rare effect
Nature News ^ | 09 April 2013 | Stephen S. Hall

Posted on 04/09/2013 7:10:10 PM PDT by neverdem

A mutation that gives people rock-bottom cholesterol levels has led geneticists to what could be the next blockbuster heart drug.

When Sharlayne Tracy showed up at the clinical suite in the University of Texas (UT) Southwestern Medical Center in Dallas last January, the bandage wrapped around her left wrist was the only sign of anything medically amiss. The bandage covered a minor injury from a cheerleading practice led by Tracy, a 40-year-old African American who is an aerobics instructor, a mother of two and a college student pursuing a degree in business. “I feel like I'm healthy as a horse,” she said.

Indeed, Tracy's well-being has been inspiring to doctors, geneticists and now pharmaceutical companies precisely because she is so normal. Using every tool in the modern diagnostic arsenal — from brain scans and kidney sonograms to 24-hour blood-pressure monitors and cognitive tests — researchers at the Texas medical centre have diagnostically sliced and diced Tracy to make sure that the two highly unusual genetic mutations she has carried for her entire life have produced nothing more startling than an incredibly low level of cholesterol in her blood. At a time when the target for low-density lipoprotein (LDL) cholesterol, more commonly called 'bad cholesterol', in Americans' blood is less than 100 milligrams per decilitre (a level many people fail to achieve), Tracy's level is just 14.

A compact woman with wide-eyed energy, Tracy (not her real name) is one of a handful of African Americans whose genetics have enabled scientists to uncover one of the most promising compounds for controlling cholesterol since the first statin drug was approved by the US Food and Drug Administration in 1987. Seven years ago, researchers Helen Hobbs and Jonathan Cohen at UT-Southwestern reported1 that Tracy had inherited two mutations, one from her father and...

(Excerpt) Read more at nature.com ...


TOPICS: Culture/Society; News/Current Events; Testing
KEYWORDS: genetics; helixmakemineadouble; ldlcholesterol; pcsk9

1 posted on 04/09/2013 7:10:10 PM PDT by neverdem
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To: neverdem
Geeze, everyone just wants to load up on the pharma.

You don't need drugs. You can keep your cholesterol low by NOT CONSUMING ANY!! But that would actually involve healthy living and discipline. Easier to just get a script.

2 posted on 04/09/2013 7:26:58 PM PDT by southern rock
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To: southern rock

What kind of “cholesterol” are you telling people to not consume? Margarine? or Organic grass fed beef? I have very low LDL and eat meat, fish, veggies...avoid carbs....


3 posted on 04/09/2013 7:35:37 PM PDT by goodnesswins (R.I.P. Doherty, Smith, Stevens, Woods.)
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To: neverdem

my blood pressure is so low naturally that I have had doctors tell me that in some countries they would give me medicine to raise it.

My mom was the same way.


4 posted on 04/09/2013 7:40:29 PM PDT by TexasFreeper2009 (Obama lied .. the economy died.)
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To: goodnesswins

Personally, I don’t consume any at all. I started it years ago after reading Dr. Furhman and Esselstyn. I love it because I finally started getting real results with my workouts. As far as keeping cholesterol low, it’s pretty much guaranteed.


5 posted on 04/09/2013 7:41:29 PM PDT by southern rock
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To: southern rock

So...you eat NO fat?


6 posted on 04/09/2013 7:43:16 PM PDT by goodnesswins (R.I.P. Doherty, Smith, Stevens, Woods.)
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To: southern rock

Your liver makes cholesterol.


7 posted on 04/09/2013 7:48:53 PM PDT by jiggyboy (Ten percent of poll respondents are either lying or insane)
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To: goodnesswins
I do. Nuts have tons of fat and protein. Avocadoes too.

The article posted is about the development of a new drug, which just sets me off. I'm so anti-pharma unless it's a life or death emergency.

If you have no problems with cholesterol, awesome, but if you do, it just kills me that people wouldn't go for the obvious solution of cutting it out.

For instance, the only reason I would avoid carbs is if I had diabetes. But, I don't and carbs are fat free generally, so I have no need to avoid them.

8 posted on 04/09/2013 7:50:29 PM PDT by southern rock
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To: jiggyboy
Your liver makes cholesterol.

Well yeah, your cholesterol isn't supposed to be 0

9 posted on 04/09/2013 7:51:30 PM PDT by southern rock
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To: southern rock

OK...now I get it....I eat nuts and avocados also....and because diabetes runs in my family (and I seem to be allergic to some sugar (sinuses)) I avoid carbs...plus, they just make me hungry. I need protein and fat and veggies....people ARE different. And, I TOTALLY agree about the Pharma....the people I know in my age group who are on statins and high blood pressure meds amazes me....it’s the LAZY (and ignorant) way to lower cholesterol/pressure, IMHO.


10 posted on 04/09/2013 8:07:20 PM PDT by goodnesswins (R.I.P. Doherty, Smith, Stevens, Woods.)
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To: southern rock

maybe you dont know this, but cholesterol is created in your liver. it is kind of important


11 posted on 04/09/2013 8:08:33 PM PDT by wafflehouse (RE-ELECT NO ONE !)
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To: southern rock

Not true. My mother and brother had sky high cholesterol, my mother ignored her’s and it stayed the same, my brother was really, really careful in his diet and it mattered not one whit, it stayed high. They have plied him with statins and niacin and fish oil, nothing brings it down.

My mother’s heart was healthy but she had Alzheimer’s which could conceivably been caused by the high cholesterol.


12 posted on 04/09/2013 8:23:22 PM PDT by tiki
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To: neverdem

Every time my cholesterol levels have been checked, the doc says “Perfect” keep doing whatever you are doing.

My 92 year old mother’s doc tells her the same thing.

We both eat whatever we please and in the amounts we please. Neither of us is over weight.


13 posted on 04/09/2013 8:56:17 PM PDT by Graybeard58 (_.. ._. .. _. _._ __ ___ ._. . ___ ..._ ._ ._.. _ .. _. .)
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To: AdmSmith; AnonymousConservative; Berosus; bigheadfred; Bockscar; ColdOne; Convert from ECUSA; ...

Thanks neverdem.
A mutation that gives people rock-bottom cholesterol levels...

14 posted on 04/10/2013 3:26:24 AM PDT by SunkenCiv (Romney would have been worse, if you're a dumb ass.)
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