The Prado Museum in Madrid hangs a pair of paintings by a seventeenth century painter Juan Carreno de Miranda, paintings of a grossly fat monstrous but innocent five year old girl named Eugenia Martinez Vallejo, called 'La Monstrua vestida' and 'La Monstrua Desnuda': The Monster Clothed and The Monster Naked. They both show an obese five year old girl whose tiny hands and feet and strange shaped eyes and mouth, kinda a suitable freak for a circus. It is plain and obvious that Eugenia showed us symptoms of a rare inherited disease called Prader Willi syndrome. Prader-Willi syndrome children are born floppy, pale skinned, refuse to suck at the breast but eat everything omnivorously, never satisfied at food, and so become grossly obese. Their sex organs are also undevelopped and yet, they are mentally retarded. Unfotunately, like autistic kids they often throw tantrums especially about food.

A family whose descendant has this syndrome usually has an opposite syndrome crop up in their same family tree, called Angelman's syndrome. Founded by Harry Angelman, a doctor from Lancashire called the patients are 'puppet children'. Opposing the Prader Willi symptoms, the children are taut, hyperactive, insomniac, small headed, long jawed and often to stick out their tongues like happy dogs. Their favorite hobbies are to play and laugh but never learn to speak and so severelly retarded.

It soon found that the same chunk of chromosome 15 is missing in the both patients. But the difference is that in Prader Willi syndrom, the missing chunk was from the father's chromosome, while in Angelman's syndrome the missing chunk was from the father's.


Prader Willi syndrome is transmitted through men and vice versa. In summary, we can conclude from both syndromes that, gene remembers which parent it came from because they have paternal or maternal imprint. Thus, the body expresses only the gene that switches on, not both.

Labels: angelman, biology, children, doctor, genes, genetic chromosomes, genome, prader-willi, syndrome

Cloning means copying

Human cloning brings up myriad of controversies to the world, nowadays. More than just because it's dangerous, but some said it means playing god. Religious says cloning is taking reproduction out from the hands of God.An argument said that cloning may cause the next generation will be man-manufactured, and may causing the price of human will decreasingly drop because by cloning human will get used to treat others like to treat an object. Human cloning aka asexual reproduction can also causing the lack of diversity in human body.

In scientist views, human cloning can lead us to be more understand about our species and can help us to find treatment for some incurable disease, e.g cancer or some genetic disorders.

The human cloning technique that has succeed to Dolly the cloned sheep, the first mammal that cloned is called somatic cell nuclear technique which an egg cell taken from a donor has its nucleur removes and fused to one that has genetic material.

Labels: biology, cloning, genes, genome, techniques

In every biochemical events in body, there are genes. If human body is a book, genes are just sentences of prose written over it. The entire of genetics complements is called genome. Matt Ridley, a British science editor, in his book Genome (1999) painted that if the genome is a book, there are twenty three chapters, called chromosomes. Each chapter contains stories, called genes. Each stories are made up of paragraphs called exons, which are interrupted by advertisements called introns. Each paragraph is made up of words, called codons. The letters of each word are called basses. Ridley whom wrote his book made up chapters that named after 23 chromosomes, exposed all information about each chromosome based on the number of chapter. In human body, the 23 chromosomes are made up by 22 autosomes and a pair of sex chromosomes (xx in female and xy in male). In size, the 22 pairs are numbered by the largest (number 1) to the smallest (number 22). The sex chromosome X is located between number 7 and number 8, while Y is the smallest.

Genes are located in a chromosome. In each chromosome, there are 400-4000 genes. Genes are written in three bases or called as codon. The 4 bases are Guanine, Cytosine, Adenine, and Thymine. The bases are written on long chains of sugar and phosphate called DNA. During the replication, A likes to pair with T and G likes to pair with C. For instance, the sequence of ACGT becomes TGCA in the copy form. Besides the gene is able to do replication, it is also able doing translation. The translation starts with the transcription of the gene into a copy by RNA with the same base-pairing process except that it uses letter U for uracil to pair with T. Then a ribosome moves along the RNA copy (messenger RNA) translating each codon into twenty different amino acids. Later, the chain of amino acids forms a protein. In conclusion, every protein is a translated gene. Protein itself also responsible to switch gene on or off for being promoter and enhancer of a particular gene.

Unfortunately, during replication mistakes are sometimes made. This is known as mutation. Although genes are small and tiny, this doesn’t mean genes are unimportant. If an error happens in a gene, this may caused flaw in body system. For example, when chromosome 3 is broken it caused a metabolic anomaly disease named alkaptonuria, or like the most famous genetic disease Huntington’s happens because of chromosome 4 mutation and when there is a complete lack in chromosome 4 it may causes rare Wolf-Hirscchorn syndrome, the chromosome 6 if it is broken can cause the problem of human intelligence. In genetic disorder, there is no 50-50 probability you get it or not. You either have mutations, in which case you get these genetic diseases, or you don’t.

But, the genetic doesn’t always work in that digital way. Sometimes, it depends on environment too. Like the case of asthma. There are 15 ‘asthma genes’ in all chromosomes (8 genes in chromosome 5, 2 each in chromosome 6 and 12, and 1 each in chromosome 11, 13, and 14). These genes are producing immunoglobulin E aka IgE. According to medterms.com, IgE acts as antibody in our body by eliciting allergen (allergic mucous). Most asthmatics are allergic to something. Asthma, eczema, allergy, and anaphylaxis are syndrome that triggered by IgE. So, that’s why allergic person has asphyxia.

Asthma itself is a chronic inflammation in bronchial tube and causing the tightening of the windpipe. How does it correlate with chromosome 5? ADRB 2 lies along in chromosome 5 and it responsible to produce beta-2-adrenergic-receptor which controls the bronchodilation and bronchoconstriction that cause the tightening in bronchus or windpipe. According to American Lung Association, feather, pollen, vigorous exercise, dust mites are the most common asthma triggers. No matter what triggers a person to have asthma, his or her asthma syndrome still triggered by IgE.

Sources:
Ridley, Matt. 1999. Genome. USA: Harper Collins.
Medterms.com
Wibowo, Daniel . 2005. Anatomi Tubuh Manusia. Jakarta: Gramedia.

Labels: asthma, biology, chemical, chromosomes, genes, genome