Vitamins

Many of us have our children on a vitamin supplement. Who knows if this makes a difference. Some thoughts below.

Vitamin E

I wonder if the Vitamin E in Dr. Judy's formula maybe contributes to how well it works:

J Cardiovasc Pharmacol. 2003 Aug;42(2):211-7. [] Vitamins C and E improve endothelial dysfunction in intrauterine-undernourished rats by decreasing vascular superoxide anion concentration.

Franco Mdo C, Akamine EH, Aparecida de Oliveira M, Fortes ZB, Tostes RC, Carvalho MH, Nigro D. This says that rats that didn't get the nutrients that they need to grow in utero profit from having extra vitamine E and vitamin C. The vitamins improve blood flow throughout the body. Could this be contributing to the improved muscle growth and activity that we see in our kids?

Comp Biochem Physiol C. 1991;100(3):665-9. Related Articles, Links

Vitamin E regulates acetylcholine receptor function of molluscan neurons.

Dyatlov VA.

This says that vitamin E increases expression of acetylcholine receptors in the nervous system. Acetylcholine receptors are critical for communication between the nervous system and muscles. Note, that this study was performed in snails, but all great works in neuroscience began in mollusks...

So, now, are you all even more confused? I know that I am. What if our kids need more Vitamin E? What if Vitamin E is part of the magic formula? They are only now starting to do good research on the benefits of Vitamin E on recovery from stroke and on decreasing the cognitive decline associated with Alzheimer's...

Vitamin A

A researcher in the Department of Nutrition at the University of Connecticut (where I studied and worked for many years) is conducting research on the relationship of Vitamin A, gene expression, metabolism and liver cells. Her research proposal was ranked as the top proposal nationwide for the USDA National Research Initiative's Program Improving Human Nutrition for Optimal Health:

http://www.advance.uconn.edu/2004/041018/04101808.htm

I also found interesting information on the Linus Pauling website about Vitamin A, discussing how "...retinal can be converted by the body to retinoic acid, the form of vitamin A known to affect gene transcription... retinoic acid (RA) has been found to regulate expression of the gene for growth hormone..."

http://lpi.oregonstate.edu/infocenter/vitamins/vitaminA/

The more I read about this, the more I wonder if there is a link with PWS?

Fat metabolism

CD36/fatty acid translocase (FAT) on chromosome 7 is significantly down-regulated in PWS. (Clin Genet. 2006 Jan: CD36 expression and its relationship with obesity in blood cells from people with and without Prader-Willi syndrome) 9-cis-retinoic acid (a vitamin A metabolite) up-regulates CD36/FAT. (Biochim Biophys Acta. 2005 May 30: Gene expression profiling identifies retinoids as potent inducers of macrophage lipid efflux). So your suspicion that vitamin A might play a role in the regulation of the expression of at least some genes in PWS seems well-founded.

Btw, I came across the CD36-PWS-vitamin A connection a few days ago because a friend's baby with PWS (UPD), who was severely hypotonic and "lethargic" until acetyl-l-carnitine (ALC) supplementation was started about 1-1/2 months ago, suddenly redeveloped severe hypotonia and lethargy for a day after being given a one tsp dose of fish oil (not on my recommendation, btw). On a per weight basis, that would be about 3 tbs for an adult, which might make me somewhat nauseous and sluggish, but I doubt it would plunge me into severe hypotonia. Her response to the fish oil, plus the fact that she responded so well to the ALC and there are anecdotal reports of other children with PWS who have responded well to L-carnitine, were further confirmation of my suspicion for a while now that there is an impairment in fatty acid uptake and/or energy metabolism in at least some with PWS. Unfortunately, energy metabolism in PWS is very poorly characterized despite the fact that hypotonia, hyperphagia and other characteristics of PWS fairly scream out impaired energy metabolism (at least to me :-). Anyway, I ran across the Clinical Genetics abstract while trying to figure out her response to the fish oil and decided to investigate CD36 more closely. So far two things really stand out about CD36/FAT with regard to PWS - (1) it plays a primary role (along with carnitine palmitoyltransferase I (CPT I)) in the transport of long-chain fatty acids into muscle mitochondria for oxidation, and (2) it also plays a primary role in dietary long-chain fatty acid processing for absorption in the intestines. So if dietary long-chain fatty acids aren't being absorbed well in PWS and their transport into mitochondria are impaired in PWS, it shouldn't be a big surprise that hypotonia and mental and physical lethargy are part of the classic presentation of PWS. Maybe you should start a page on mitochondrial dysfunction and energy metabolism? :-)