Marcello Villanova, MD, Ph.D.
(Typed from a faxed copy where some portions were not readable.)
Molecules that stimulate SMN2 gene.
More copies of SMN2 correlate with milder SMA..
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Molecules that protect neuronal degeneration
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Researcher at the University of Pennsylvania showed that to perform it function SMN protein interacts with numerous proteins in the cell.
These functions will be efficient if the proteins to wh??? needs to interact are first bind by specific enzymes.
This tags are made up of many groups that are attached through the amino acid arginine (the process called 'methylation').
The methyl group are tags by 'methyl donor' called S-adenayimethionine that receives this methyl??? from folic acid through a pathway that requires vitamin B12.
Deficiency of folic acid and vitamin B12 could result in methylated mentholated which are exactly the kind mentholatedens SMN needs to find to function properly.
Since SMA patients are already compromised in their levels of SMN, they might be expected to be more severely afflicted by such nutritional deficiencies.
Folic acid and Vitamin B12 may be helpful in lessening the severity of the disease.
Recommended Daily Allowance is...
| Vitiam B12 | Folic Acid | |||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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Creatine is a naturally occuring compound obtained in humans from endogeneous prod??? and consumption through the diet.
Creatine is found in a variety of foods including lean red meats and leafy green vegetables.
It is made by three amino acids--arginine, olycine, and methionine. The liver has the ability to combine these three amino acids and make creatine.
Production of ATP (adenosin triphosphate)...
Creatine Kinase --> Converts ATP to energey (???) --> ADP --> ???????
Glycolysis & Oxydative Phosp???? --> Less efficient than creatine kinase.
When supplemented with exogenous creatine, intramuscular and cerebral stores of creatine and its phosphorylated form--phosphocreatine--become elevated.
The increase of these stores can offer potential therapeutic benefits by preventing depletion, stimulating protein synthesis or reducing protein degratdation and stabilizing biological membranes.
Creatine supplemenation in humans leads to an increase in intracellular creatine and phosphocreatine concomitantly imporoving anserobic performance o??? shortens muscle relaxation time, increases fat free- o??? mass as well as the cross-sectional area (fiber diameter) ??? muscle fiber types.
Where is Creatine Stored in Our Body?
93-95% of creatine is stored in our muscles. The remainder (About 5-7%) is stored in various ot?????ts of the body including ?????
Creatine seems helpful not only for athletes to improve physical performance on different levels, but is also emerging as a therapeutic aid for neuromucular and neurodegenerative diseases.
Matthews R.T. et al. (1998) Neuroprotective effects of creatine and cyclocreatine in animal models of Huntingtons disease
Tarnopolsky MA, Martin J. (1999) Creatine monohydrate increases strength in patients with neuromuscular disease. Neurology 52(4):854-857.
Walter et al. (2000) Creatine monohydrate in muscular dystrophies: A double-blind, placebo-controlled clinical study. Neurology. 2000 May 9;54(9):1848-50.
Klivenyi P, et al. Neuroprotective effects of creatine in a transgenic animal model of amyotrophic lateral sclerosis. Nat Med. 1999 Mar;5(3):347-50.
Very remarkable neuro-protective effects have been reported in an animal model of ALS where 1% and 2% creatine in ???? significantly increased life span of mice in a dose-dependent manner, and also dealyed motor neuron degeneration measured by motor performance.
: Wilken B, et al. Creatine protects the central respiratory network of mammals under anoxic conditions. Pediatr Res. 1998 Jan;43(1):8-14.
In animal models, creatine was shown to remarkably protect the brain of mice from hypoxic damage and seizures in vivo.
The objective of the study was to determine whether creatine slows progression in patients with spinal mucular atrophy.
Length of the study: Months
Age of patients: Male or femail aged 6-60
Inclusion Criteria: Patients affected by SMA Type III That are still able to walk.
Study Medication: 0.1g/kg/day of creatine monohydrate in two divided doses.
Myometery
Spirometry
Function scale
Patients enrolled in the study: 25
Two patients with upset stomach minimized drinking plenty of water when taking creatine.
Ten patients have completed the study. Blood ??? has shown no negative effect on markers of renal function or muscle and liver enzymes.
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