Posts Tagged ‘DNA’

Open for discussion

October 1, 2010

As Funky Heart! readers know,  my outlook on life is very optimistic. So when I received the following comment on yesterday’s post (Replace the PulseOx test for CHD!) it gave me pause for thought:

I absolutely hate to introduce this idea, but genetic progress will lead to aborted CHD babies.

That’s precisely what happened after the Cystic Fibrosis gene was discovered at Sick Kids in Toronto.

Not to say that this isn’t progress, but it could severely and negatively impact on CHD clinical, surgical and research developments for those alive today, and on those that could survive in the future.

You tell me…

As a parent, if you were told at 20 weeks gestation, that your child would have to endure multiple surgeries before the age of 5 and be faced with ongoing morbidity issues and early mortality, what would you do?

Here in Canada where abortion is pretty much a clinical intervention, where there’s no morality involved in the decision, it might lead to the loss of our investment in all kinds of CHD clinical, surgical and basic research.

It’s a huge emotional journey for parents, and I don’t know whether, if they knew what they know now, after experiencing the life of their CHD child what they would do if they could undo it at 20 weeks, long before they deliver a “baby” with a complex heart malformation.

Anyway, food for thought for all us in this world of CHD.

I hadn’t considered the implications if a test existed that could accurately detect a heart defect in a fetus, but science could conceivably take us there. Couple that with an e-mail discussion with a friend  about U.S. sterilization laws in the early 20th century, and it really gave me something to think about last night and this morning during my therapy session.

So I decided not to approve the comment, (Where it might tend to get lost at the bottom of the page) but rather to feature it as a post and ask the question: What do you think? How do you think such a test would affect the CHD world? How would it affect you personally and/or your Cardiac Kid?

Feel free to post your thoughts or comments in the comment section. Healthy debate is welcome, but personal attacks or rude behavior is not.

Replace the PulseOx test for CHD!

September 30, 2010

Just a few weeks ago the Pulse Oximetry test (also known as PulseOx) became part of the Newborn Screening Uniform Panel. In a post on this blog, we discussed how the PulseOx was a good test, but not perfect.

But what if we could discard the PulseOx, in favor of a better test?

Hot off the press – really, it hasn’t even been printed yet, it was electronically published before a print version is available – is a study by the University Medical Center in the Netherlands. Appearing in the European Journal of Clinical Investigation is a study (CLICK HERE to read the abstract) showing that certain biological markers do show up more often in children with Congenital Heart Defects! In the study, higher concentrations of S-adenosylmethionine, S-adenosylhomocysteine, and folate RBC were observed in children with heart defects.

(Don’t ask me to explain all that; it’s DNA and Molecular Biology with a little Chemistry thrown in for good measure!)

Could this test replace PulseOx? Perhaps… but not tomorrow. The study was a relatively small study, with only 329 children participating. (143 CHDers with 186 heart healthy children as a control group) The researchers themselves even stress that more research needs to be done.  But we could very well be looking at the first steps to a foolproof, 100% accurate “GOTCHA!” test for heart defects. And by studying the DNA changes that occur with a CHD, we could unlock the secret to how heart defects occur… and stop them before they begin!

Special thanks to Amy Basken for bringing this research to my attention. Amy is tireless, working for several different CHD groups. Today she represents Mended Little Hearts!

New studies of ToF

July 30, 2009

There is new research into the causes of Tetralogy of Fallot (ToF), focusing on the genetic makeup of ToF hearts.

“Tetralogy” means “four parts,”  and ToF is a combination of four separate problems : a Ventricular Septal Defect (VSD);  Pulmonary Stenosis; an Overriding Aorta; and an extremely muscular Right Ventricle. (Here’s a diagram)

ToF accounts for about 10% of all heart defects, and was the defect that the Blalock-Taussig Shunt was designed to relieve. The B-T Shunt was a palliative measure, meaning that instead of curing the defect, it was meant to relieve it. Even today there is no cure for Tetralogy of Fallot, although it can be surgically repaired.

ToF has always been a puzzling defect because the parents of a Tet child usually have no cardiac issues. Recent research only deepened the mystery as it seems that there is no genetic predisposition, either. ToF seems to “pop up” when it wants to.

Scientists at the Howard Hughes Medical Institute have recently found some clues into the genetic makeup of  the defect. After scouring the DNA of 114 Fallot patients, they have found 11 segments that might lead to the occurrence of Tetralogy of Fallot. They are so small that if you put all these DNA segments together, you can’t see them.

Technically these segments are known as copy number variations. The segments control how much protein is produced by a cell, and the variations can cause too much of one protein, not enough of another – and alter your health forever. So now the work shifts to identifying and controlling individual genes. One has already been found: change that gene, and the risk of having ToF multiplies by nine.

Perhaps this research will one day lead to a pill or injection for expectant mothers  that will stabilize the child’s DNA and prevent the occurance of Tetralogy of Fallot!

And a child shall lead them

May 20, 2009

Holy Cow!

Did 17 year old Candace Turner open a door for Congenital Heart Defect research?

You really got to wonder: Here’s Candace, a 17 year old high school student participating in a “science boot camp.” All science, all the time; from what I understand. They pour it on you for eight weeks. She was studying the DNA of children with Congenital Heart Defects, looking for mismatches – better known as mutations – when lo and behold, she found one.

That’s amazing – scientists with years of experience have been studying CHDers for years, trying to figure out what causes heart defects. And suddenly a high school student finds a possible cause. Talk about letting a fresh set of eyes look at the problem!

But then she found another… and another… and when she had finished, Candace had found four separate mutations that might contribute to the development of heart defects.

The Boot Camp is now over, and her research has been turned over to other researchers, who study Heart Defects full time. They think she’s really on to something!

With this discovery, Candace could write her own scholarship to any major college in the United States. And she’s decided to become a doctor!

You go, girl!

How did this Happen?

August 15, 2008

Research continues into what causes a Congenital Heart Defect, and there is progress being made. It wasn’t that long ago when a concerned parent asked “How did this happen?” a cardiologist could only spread his hands in the universal “I don’t know” gesture. But today some answers can be given.

Most contributing factors are beyond a mother’s control. Since the 1990’s when DNA was mapped, several gene mutations have been identified as being associated with CHDs. The problem with defective genes is that you either have them or you don’t and it may never, ever affect you. Literally, there’s no problem until there is a problem.

Exposure to certain environmental factors can cause a CHD, but again, no one is sure exactly what — or how much — is the trigger. This isn’t like the Thalidomide crisis of the late 1950’s – early 1960’s when a series of birth defects was found to be connected to the use of one certain drug. It seems to be completely random.

To offer an example, there is a “cluster” of heart defects, specifically Hypoplastic Left Heart Syndrome (HLHS) in the Baltimore/Washington DC area. The incidence of all CHDs in this area is higher than average, and the occurrence of HLHS is higher still. A study of the area determined that the presence of  ” industrial release of solvents, dioxin, and polychlorinated biphenyls in air” could be a contributing factor. But outside the cluster, possible factors could include… “maternal art painting.” This appeared in the Jan/Feb 2006 issue of Pediatric Cardiology, so apparently there is enough of a correlation between art and HLHS to be mentioned. So hide the paint set.

Too many factors, reacting in too many different ways, give CHDs the appearance of being totally random. That’s why someone who snorts, drinks, injects, or smokes every drug known to man can have a perfectly healthy child, while someone who does all the right things during her pregnancy earns the title Heart Mom.

Perhaps there is one common factor in the causes of CHDs: Heart Moms and Heart Dads all share one common trait. Every last one of them have steel in their spines.