Friday, October 24, 2008

Book Update!

Wow, a lot of time has gone by since I last updated about the book!! We have had several delays to finishing our book, but we are almost completed now. Our move to Oklahoma caused a big wave in the progress of our book, but we are caught back up.

The book is 589 pages long and it has come together beautifully! I am just in the final stages of getting the book published and then it will be available to all! We look forward to being able to get the positive side of DS out there as much as possible. We already have a lab office that would like to keep a copy of one of our books, since they get a lot of patients with DS! Hopefully we can get it into the hands of many doctors, hospitals, professionals and parents.

See more about the book at


Wednesday, October 15, 2008

More on the CBS gene overexpression

While searching PubMed, I ran across another study showing the biochemical imbalances in DS. Several of the things they found in this study show the over expression of the CBS (cystathionine-beta-synthase) gene.

[Biochemical alterations in patients with Down syndrome]

Down syndrome is a chromosome abnormality with specific clinical symptoms and mental retardation caused by trisomy of chromosome 21. The basic genetic change cannot be cured, the control of the associated symptoms, however, may improve the patients' quality of life. AIMS: Authors studied the possible correlations between the Down-specific genes and the related biochemical changes. Expression of superoxide dismutase, cystathionine-beta-synthase and S100 protein was investigated. Further aim of the study was to determine the total serum antioxidant capacity (transferrin, ferritin, total protein, albumin and bilirubin) along with the extracellular antioxidants as well as concentrations of homocysteine, folic acid, and vitamin B 12 . To assess the vascular damage, the activity of NAG and S100B level was measured. METHODS: Standard laboratory methods were used to determine the antioxidant capacity (Stocks, 1974), homocysteine (HPLC), folic acid (capture, IMX-Abbott), vitamin B 12 (MEIA, IMX-Abbott), S100 B protein (chemiluminescence sandwich immunoassay) levels, and N-acetyl-beta-D-glucosaminidase (spectrophotometry). RESULTS: Plasma homocysteine value proved to be lower in 7 of the 30 and higher in 6 of the 30 patients studied than the reference range. Plasma homocysteine was found 95 +/- 21% of the reference value. Relative value of plasma folic acid - expressed in percent of the normal value - was 85 +/- 51%, and that of B 12 was 78 +/- 30%. Deficiency of folic acid was detected in 2 of the 30, decreased level of B 12 in 2 of the 30 patients enrolled. No difference was found in antioxidant activity values between Down syndrome patients and healthy controls, however, neither of them reached the adult reference range. S100 protein concentration of 4-8 times higher values (average value: 0.68 +/- 0.27 microg/l) than upper limit of the reference range was observed (> 1 year: > 0.15 microg/l). Mean value of serum N-acetyl-beta-D-glucosaminidase remained within the reference range (10-30 U/l). No statistically significant correlation between the antioxidant activity and N-acetyl-beta-D-glucosaminidase values could be observed. CONCLUSION: The lower homocysteine, folic acid and B 12 values may be considered as the consequence of an increased cystathionine-beta-synthase activity ("atheroma free model"). There was no significant alteration in antioxidant activity level. It can be supposed that the hydrogene peroxide produced due to increased expression of superoxide dismutase is metabolized by the induced glutathione-peroxidase and catalase keeping by this the balance of the antioxidant system. This hypothesis is supported by the normal N-acetyl-beta-D-glucosaminidase values not indicating any vascular damage. The high S100 values, however, reflect certain brain damage which shows a progress with the age. Based on these experiences, regular control of these parameters is recommended. Furthermore authors think that folic acid supplementation is indicated in order to improve the patients' learning capacity, inhibit the development of Alzheimer symptoms and improve the quality of life.

~ Qadoshyah

Glutathione & oxidative stress

It is known that there is an increase of oxidative stress in Down syndrome due to over expressions of certain genes. There is also a decrease of glutathione due to over expressed genes. I happened to come across a study today while I was searching PubMed that was done in April 2008. It is called, A mathematical model of glutathione metabolism. This study was done at Duke University.

In the conclusion in the abstract it states,

"The model shows that overexpression of genes on chromosome 21 and an increase in oxidative stress can explain the metabolic profile of Down syndrome."

I thought this was interesting. It shows one of the mechanisms and reasons why glutathione is low in DS. The full text of the study can be seen here.

~ Qadoshyah

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