CBS Genetics

Here's another post that will make no sense to you unless you are a genetics Geek.  These are some illuminating comments made about a very misunderstood gene called CBS by phD researcher and Very Smart Person Susan Owens, who I have known for years in the autism community.  Genetics Geeks, enjoy! 

QUESTION: Not sure if anyone would know but trying to understand this. I have the CBS ++ but when tested i have under range ammonia levels. Does this mean my methyl is not upregulated?

Susan Owens Actually, the [CBS] SNP that Yasko was emphasizing so is actually viewed by scientists as an advantage, and not a problem. That is why it was being studied, because of its benefits!  Until the scientists figure out what was in linkage disequilibrium with it, we won't know what it's "thing" really is. I don't know if those studies will be done because I don't think scientists are finding that it is all that important. All we know right now is that it doesn't seem to involve this big upregulation that Yasko thought was there because she confused it with a more serious mutation, apparently....   

 Sara, the upregulation is GOOD for you, because it is upregulated to make more glutathione for you. This is what Yasko really had confused, and I'm afraid now that it has given CBS a bad name. It is a very beneficial molecule because it helps us combat oxidative stress!... 

I don't known if I am the only old person around here, but maybe some of the others of you remember that a group named the Byrds popularized a beautiful song out of Ecclesiastes 3 which says: There is a time for everything,and a season for every purpose under heaven. Well, there is a time for methylation, and there is a time for transsulfuration but when it is time for methylation, transsulfuration must wait; when it is time for transsulfuration, methylation must wait. This is how we are designed and it is a very good thing that we have this switch so that we can go to bat for ourselves when we are in oxidative stress....

Sara, you can help reduce oxidative stress with supplements like N-acetylcysteine, and glutathione, and alpha lipoic acid, vitamin E, CoQ10, ascorbic acid, melatonin, selenium, etc. By restricting these, you just keep the body trying to cope with more efforts to convert methionine to glutathione, keeping methylation on hold. Methionine synthase cannot work when there is too much oxidative stress. It turns off on purpose.

Lustig on Sugar and Chronic Metabolic Disease

Another very important video from Dr. Robert Lustig from the kids obesity unit at UCSF.

I really admire Robert Lustig's clarity, his scientific background and his stand for people's health and continuing to speak out about the obesity crisis, despite mass apathy and media-driven confusion.  

Here are some highlights from this excellent video:

(On whether obesity is just due to behavior)

"How do you explain obesity in six-month-olds?  They don’t diet and exercise.

Obesity is occurring in countries that still have malnutrition.  This looks much more like an exposure, than it actually does, like changing behavior.

There’s really no such thing as behavior.  There’s really just biochemistry.   Biochemicals change in the brain, driving behavior.

In obesity, what is driving that behavior?  I can sum that up in one word:  Insulin.  Insulin does two things:  Drives energy into fat cells, thereby increasing the amount of energy stored, therefore the obesity.  But, the other thing that Insulin does is it blocks the signal in the brain that would normally convey satiety and signalling energy adequacy.  That signal is called Leptin, and Leptin is a hormone that’s made from your fat cells, goes to your brain and tells you you’ve had enough.  But insulin blocks that signal.  So by doing peripheral changes which drive energy deposition and inducing central changes that drive starvation at the level of the brain you can see how that would turn into a vicious cycle of consumption and also disease.  So what we have learned is that Insulin is the bad guy in this story.

Q: So what can families and individuals to do change their biochemistry, or is this not something they shouldn’t be worried about at all?

The question is, what caused the Insulin rise?  If you look at studies from the 1970’s  in terms of how high your insulin went in response to a glucose challenge, maybe 50 microunits per ml.  Now we’re up to 100, 150, sometimes even 250 microunits per ml (for the same test), in kids.  So the question is how come kids are releasing twice or 3 times the insulin they were before.  And that is the crux of the obesity question. 

So, what’s changed during that time?  Certainly our genes have not changed.  But our diet has clearly changed.  And, what makes insulin go up?  Sugar.  But what kind of sugar.?  Well, there are three molecules that constitute the standard sugars.  There’s glucose, which is absolutely essential for life.  It’s so important that if you don’t get any, your body makes  it in order to keep your blood glucose level up.   There’s galactose, which is in milk sugar, which is immediately converted to glucose in the liver… 

And then there’s the last one - Fructose.  Fructose is the sweet part of table sugar.  It’s in sucrose.  It’s in hfcs, it’s in maple syrup, it’s in agave nectar and it’s the thing we seek, virtually every caloric sweetner,  it’s the thing we like.  The problem is that fructose is not glucose, never was, never will be.  Glucose is a 6 membered ring, fructose is a 5 membered ring.  Glucose is regulated by insulin.  Fructose is not regulated by insulin.  Glucose goes to glycogen or liver starch in the liver for storage and that is a non toxic storage form of energy in the liver, which is good, and it’s what you want to make, so you have ready energy for exercise, so if you’re glycogen depleted from either starvation or from severe exercise, you can rebuild glycogen with fructose.  

But, what happens if you’re not.  What happens if you’re at rest… and you take in a large sugar load, say a soft drink or a sports drink, or one of these energy drinks, which has an enormous bolus of sugar.  What happens is that the fructose is not converted to glycogen.  It has no choice to go down to the energy mitochondria, the little energy burning factories in the cells.  They overwhelmed, these mitochondria, and they have no choice but to take the extra energy that’s been provided by the fructose and turn it into liver fat.  Liver fat drives all the other chronic metabolic diseases, by inducing insulin resistance in the liver, liver fat drives cardiovascular disease, lipid problems in the blood, hypertension, diabetes.  And possibly cancer and dementia as well.  So that’s where the problem is.  The overload of Fructose to liver mitochondria, driving chronic metabolic disease. 

....

Q: What do you recommend that the patient who is concerned about the health risks of obesity do?

I can sum it up in three words: eat real food.  Real food has fiber and real food is primarily low in sugar.  … The problem is, when we purify [food] the stuff, that concentrates the dose and ultimately leads to an over-the-threshhold effect, and once you achieved the threshold in the liver for fructose, you start getting disease.  The question is where is that threshold.  And it’s probably different for different people.  It seems to be lower for latinos.  Anything you can do to increase your threshold would be good.   One of those things is fiber and the other one is exercise.  And that’s what we say.  Eat properly.  Eat real food.  Exercise.  And you’re good to go.   And that’s what I espouse as well.  But I do it based on the science.

A couple of points I got from this video that hadn't occurred to me before: 

1. Adding fiber to foods doesn't really work.  Fiber, as it occurs naturally in food, is a combination of soluble and insoluble, and they are together that way for a reason.  Watch video for more details, but basically, foods with fiber added and taking supplemental fiber is not the same as eating food with fiber intact.

2. Making a smoothie out of a fruit destroys the fiber in it.  Eat the fruit, don't drink it, even as a smoothie (goes for juicing too).

  

Chocolate Chip Cookies (gluten free)

We love these, and they're gluten free and egg-free. If you need to make them without casein, just use your favorite butter subsitute instead of the butter.

2 1/2 cups almond flour*
1/2 tsp sea salt
1/2 tsp baking soda
1/2 cup butter
1/2 cup agave nectar
1 Tablespoon vanilla extract
1/3 cup chocolate chips

Preheat oven to 350 F. Line 2 large baking sheets with parchment paper.
In a large bowl, mix almond flour, salt and baking soda. Cut in cold butter until it makes small crumbs. Stir in agave, vanilla and chocolate chips. Drop by heaping spoonfuls onto cookie sheet, pressing down each one with your palm. Bake 9-11 minutes, until golden . Let cookies cool on baking sheet for 20 minutes, until set.

* For these to turn out well, you need very finely ground almond flour, finer than the kinds sold at most health food stores. We buy ours at nuts.com.

This week in Autism 8/3/13

From time to time, we see some really significant news in the autism world.  This week was one of those times!  For more autism news, all the time, see my Autism Page on Pinterest, where I pin important Autism artcles the moment I find them.

Courts Quietly confirm MMR causes autism - Austin. After decades of passionate debate, parents probably missed the repeated admissions by drug companies and governments alike that vaccines do in fact cause autism. For concerned parents seeking the truth, it’s worth remembering that the exact same people who own the world’s drug companies also own America’s news outlets. Finding propaganda-free information has been difficult, until now.   READ MORE

Asperger's and Autism: Brain Differences Found - Children with Asperger's syndrome show patterns of brain connectivity distinct from those of children with autism, according to a new study. The findings suggest the two conditions, which are now in one category in the new psychiatry diagnostic manual, may be biologically different. READ MORE

And the really BIG news - we may soon have an objective way to diagnose autism, and maybe even a way to detect it early on...

Chemical Changes in Brain Identify Autism - Children with autism spectrum disorders (ASD) have brain chemical changes between the ages of 3 and 10 that distinguish them from children with other forms of developmental delay, researchers reported. 

In particular, concentrations of N-acetylaspartate, which plays important roles in several brain functions, rises over time to near-normal levels in ASD children, according to Stephen Dager, MD, of the University of Washington in Seattle, and colleagues.

In contrast, the compound remains at a low concentration in children with non-autism developmental delays, Dager and colleagues reported online in JAMA Psychiatry.   The pattern of changes of several other brain chemicals also differed between the groups, and between both groups and children with typical development, in a study that combined longitudinal and cross-sectional features, the investigators reported.   READ MORE   PUBMED REF