I started this blog to not only document our fundraising efforts but to think about various research that is taking place and hear what all of you think about it too. Research into PWS is the whole reason behind all of these efforts....we are so hopeful that if we all band together and fund the research that sooner rather than later there will be solutions to at least some of our kids struggles. For me, I would be happy with a cure to the hunger if nothing else - but I will take whatever I can get :)
I saw this article posted today and I read through it - a few times. It took me a few read throughs to feel like I understood the findings (I think). I want to understand everything about my daughter's condition and the best ways to help her but this type of material is not natural for me. Hoping all of you can help add to my understanding.
Does this mean that carnitine and CoQ10 supplements may not have an impact on our kids?
I don't have Ellie on Carnitine or CoQ10 supplements. Do you have your children on them? Do you think it is helpful? How so?
Carnitine deficiency or coenzyme Q10 (CoQ10) deficiency may present with
hypotonia, poor growth, easy fatigability, and apnea. This constellation of
findings can also be seen in individuals with Prader-Willi syndrome (PWS).
Animal studies indicate that increased fat mass due to obesity negatively
correlates with both carnitine and CoQ10 levels in skeletal muscle. Increased
body fat and obesity are characteristic of individuals with PWS. Currently,
there is no documentation of serum carnitine levels, and only one study
investigating plasma CoQ10 levels, in individuals with PWS. Fasting serum
carnitine and plasma CoQ10 levels were measured in 40 individuals with
molecularly confirmed PWS (ages 1-27 years; 19 F/21 M), 11 individuals with
early-onset morbid obesity of unknown etiology (ages 3-13 years; 5 F/6 M), and
35 control siblings from both groups (ages 1-24 years; 19 F/16 M). There were no
significant differences among the three groups in either total carnitine, free
carnitine, or CoQ10 levels. However, individuals with PWS had higher serum
levels of carnitine esters (P = 0.013) and higher ester-to-free
carnitine ratios (P = 0.0096) than controls suggesting a possible
underlying impairment of peripheral carnitine utilization and mitochondrial
energy metabolism in some individuals with PWS. Serum sampling identified no
significant differences in total and free carnitine or CoQ10 levels between
individuals with PWS, obese individuals, and sibling control groups. Muscle
biopsy or measurement in leukocytes or cultured skin fibroblasts could be a
better method to identify abnormalities in carnitine and CoQ10 metabolism in
individuals with PWS than peripheral blood sampling. © 2011 Wiley-Liss, Inc.
Copyright © 2011 Wiley-Liss, Inc.
Here is the link.....