By Jodee Redmond from In The Cloud Copy
The results of a study have found that betaine and the active form of folic acid, L-methylfolate, are not effective measures to ease developmental symptoms in children living with Angelman syndrome.
What is Angelman Syndrome?
Angelman syndrome (AS) is a neurodevelopmental disorder caused by a genetic defect that effectively deactivates or deletes the UBE3A gene. AS causes many physical and intellectual disabilities.
Normally, a developing fetus inherits two sets of the UBE3A gene: one from the mother and one from the father. Copies of the gene are present in most of the body’s tissues. They power the production of a specific enzyme known as ubiquitin protein ligase E3A.
In certain parts of the brain, only the UBE3A inherited from the child’s mother is active. This is the gene that is driving production of the enzyme in nerve cells.
Genomic Imprinting a Factor in AS
During development, a process known as genomic imprinting occurs. This is one of the factors that influence how certain genetic conditions are inherited from parents to their children.
In most cases, both sets of a gene (one from each parent) are active in the child’s cells. Sometimes, only one of the sets is turned on depending on which parent “contributed” the gene. It’s normal for certain genes to be active when they are inherited from the father, while others are only active when they are inherited from a child’s mother.
Genomic imprinting only affects a small percentage of human genes. Researchers are still trying to determine why some genes become imprinted while others don’t go through this process.
In AS, the gene contributed by the father is silenced in certain areas of the brain. The mother’s copy of the gene then blocks production of the ubiquitin protein ligase E3A normally produced by the brain which may be the cause of AS.
If the father’s copy of the gene could be “unsilenced,” researchers reasoned, it could potentially be a source of active enzyme for people living with the disorder. This could be a potential treatment to lessen the severity of the disease’s symptoms.
Small Study Looked at Sets of Identical Twins
Researchers at the University of California at Irvine looked at two pairs of identical twins in the small study. The participants were treated with either betaine and Metafolin (the brand name for L-methylfolate) or a placebo for 12 months.
Both betine and folic acid are natural substances, found in foods. This work was part of a larger clinical trial that was evaluating dietary supplements to determine whether they would be effective in treating AS symptoms.
The scientists didn’t record any changes when they measured the twins’ speech and communication skills, cognitive abilities, or daily living abilities. These findings confirm the results of a previous clinical trial where 48 children with AS were studied. In that case, the researchers found “no significant clinical benefits” from the betaine and folic acid treatment.
The results of the study, titled “A Placebo-controlled Trial of Folic Acid and Betaine in Identical Twins with Angelman Syndrome,” was published in the Orphanet Journal of Rare Diseases.
