So you’re saying redheads aren’t mutants?
Posted on 07/15/2013 12:16:26 AM PDT by neverdem
She was a 32-year-old aerobics instructor from a Dallas suburb — healthy, college-educated, with two young children. Nothing out of the ordinary, except one thing.
Her cholesterol was astoundingly low. Her low-density lipoprotein, or LDL, the form that promotes heart disease, was 14, a level unheard-of in healthy adults, whose normal level is over 100.
The reason: a rare gene mutation she had inherited from both parents. Only one other person, a young, healthy Zimbabwean woman whose LDL cholesterol was 15, has ever been found with the same mutation.
The discovery of the mutation and of the two women with their dazzlingly low LDL levels has set off one of the greatest medical chases ever. It is a fevered race among three pharmaceutical companies, Amgen, Pfizer and Sanofi, to test and win approval for a drug that mimics the effects of the mutation, drives LDL levels to new lows and prevents heart attacks. All three companies have drugs in clinical trials and report that their results, so far, are exciting.
“This is our top priority,” said Dr. Andrew Plump, the head of translational medicine at Sanofi. “Nothing else we are doing has the same public-health impact.”
Dr. Gary H. Gibbons, the director of the National Heart, Lung, and Blood Institute, estimates that even if the drugs were expensive and injected, as many as 2 million Americans might be candidates. But if they could eventually be made affordable and in pill form — two very big...
--snip--
And there is another concern: cost. Each company’s drug is a biologic, a so-called monoclonal antibody made in living cells at an enormous expense, like some new cancer drugs that are already straining the medical system...
(Excerpt) Read more at dispatch.com ...
I wonder if down the road there might be a gene therapy treatment.
Leave it to the ignorant NY Slimes to confuse latent genes with genetic mutations...
BUMP!
The brain needs cholesterol to function properly.
One would think that if this gene was so wonderful, it would be more common just through natural selection.
So you’re saying redheads aren’t mutants?
Huh? It's apparently a single nucleotide polymorphism in the PCSK9 gene -- a textbook mutation. Go back to biology class.
It would be interesting to see a long term study on these individuals to see what health issues they have from such low levels of cholesterols. For instance, do they have a high risk of hemorrhagic stroke?
Cholesterol is not just needed by the brain but is an important component in cell membranes of all tissues. It is used in hormone production, digestion, water and salt balance, reproduction, and maintaining bone density.
So you’re saying redheads aren’t mutants?
My understanding is that low LDL is also associated with serious health problems.
What on earth is a “latent gene”?
Every single one of us has DNA mutations, about 200 of them, that do not exist in our parents.
I wonder what this woman’s health is like.
At first, I thought the article was about trying to find a treatment for that abnormally low LDL. But no, it’s about drug companies trying to duplicate the effects of the mutation.
I’ll have to recheck—I seem to recall having read somewhere that meta-analyses of studies do not support the belief that lowering cholesterol actually decreases heart disease deaths.
The article writes of her in the past tense. Perhaps that's a clue.
Unfortunately, no further information as to her fate is provided. (Another one for the annals of journalism greatness.)
I don’t care who you are, that’s funny right there
So, due to the recent supreme court case, who owns the patent on the mutation?
If the drug company creates a process for advancing this gene, will the people they gleaned the gene mutation from own the mutation or does the drug company? Or nobody?
Me too!
"Dr. Barry Gumbiner, who is directing Pfizer’s studies, said the company had to decide whether to set a floor for patients’ LDL levels. Pfizer is interrupting treatment when LDL levels reach 25 or lower. The people seemed fine, but the company got nervous."
“'There is not a lot of experience treating people to LDL levels this low,' Gumbiner said."
It's going to be an interesting story to follow. Every story about a monoclonal antibody that I have seen, names the particular entity whatever and tags it with the suffix "mab," presumably from monoclonal antibody. So I made the keywords ldlcholesterolmab and ldlmab to follow these FDA trials. The unintended consequences should be interesting.
I think they got the patent on the testing procedure, not the gene, but I could be wrong.
“The reason: a rare gene mutation she had inherited from both parents.”
You’re obviously under the misimpression that a recessive gene is the same thing as a latent gene. It isn’t. Yes, the mutation is recessive, but it’s clearly a mutation. You should take a high school biology class or two before you start calling people idiots on a public forum — doesn’t reflect too well on your judgement or character.
When the mutation is in both parents, we call it xxx when found in the child.
When the mutation is not in both parents, we call it yyy when found in the child.
When the mutation is in neither parent, we call it zzz when found in the child.
There will be a test.
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