Enlightening people since 1947

GENE IN THE LAMP

Volume 47, Issue 74 June 25, 2012

Behind Budoys Laughter

Hello! Ako Budoy! Some of you already might have heard of this famous line, followed by the socalled Budoy smirk. Anyway, that line was from Budoy, the protagonist in the Filipino TV series entitled Budoy. behind his excitable personality and laughter, Budoy is actually suffering from developmental disabilities and neurological problems. Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. It causes delayed development, intellectual disability, and neurological problems such as speech impairment, problems with movement and balance, and sometimes recurrent seizures (e.g. epilepsy). It is caused by the loss of maternal contribution to a region of chromosome 15, most commonly when a segment of the said chromosome is deleted or mutated.

Special points of interest:

Angelman syndrome Chromosomes: What are

they?
Chromosome 15: when every-

thing goes wrong

Budoy is a fictional character who has Angelman syndrome: the cause of his extreme happiness, uncontrollable hand-flapping movements, and hyperactivity. But Be happy, be BUDOY!

Chromosome, what?!
Chromosomes are thin, threadlike genecarrying structures found in the nucleus of our cells. Basically, chromosomes are the containers of our genes, which are responsible for making us individuals unique from each other. For this reason, the gene is called the blueprint of life. But chromosomes shall not be treated as mere gene containers in the body of a human.

Inside this issue:

Behind Budoys laughter Chromosomes Chromosome 15 Real Deal with Angelman The Cure 2 2 3 3 3

Chromosome 15: When Everything Goes Wrong

There are 23 pairs of chromosome in the human body, and each pair performs a specific role, and goes to a specific destination. And if anything goes wrong, these chromosomes can literally ruin your life. Well, not really, but it can cause, or rather, it will surely cause a problem. As stated earlier, Angelman syndrome is caused by a mutated or lost segment of the chromosome. It affects an estimated 1 in 12,000 to 20,000 people. The common symptoms of Angelman syndrome commonly appear during childhood. As the affected person grows older, he/she becomes less excitable. However, the affected individuals continue to have delayed intellectual ability, severe speech impairment, and seizures through their whole life.

Happy snowman is happy. He has Angelman!

The Real Deal with Angelman

We keep saying that the Angelman syndrome is caused by a mutation or a simple change on the genes, but what really happens in the genes to make it cause such trouble?

Be happy, be BUDOY!

Many of the characteristic fea-

tures of the said syndrome result from the loss of function of a certain gene called UBE3A. People normally inherit one c o p y o f the UBE3A gene from each parent. Both copies of this gene are active in many of the body's tis-

sues. In certain areas of the brain, however, only the copy inherited from a person's mother is active. If the maternal copy of the UBE3A gene is lost because of a chromosomal change or a gene mutation, a person will have no active copies of the gene in some parts of the brain.

The Cure
Angelman syndrome is a genetic disorder, and not like the ordinary diseases that are acquired from viruses, the said syndrome is not curable as for the moment. But as of May 2011,
Gene in the lamp

researchers claimed that they are on the brink of finding a cure. Unlike, Alzheimers disease and autism, Angelman syndrome affects only one gene, which makes it easy for the

researchers to study, experiment, and find a cure. Currently, people are still hoping that the cure will be discovered, but as of now, lets just be happy to see their laughter.
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