Tuesday, May 29, 2012

Single gene can make you both smaller and bigger

Genes are the foundation of biology. They basically function as a set of instructions to create a protein with specific properties and functions. Despite this simple setup, genes often collaborate with each other, as biological systems are often complex and require multiple proteins that interplay. That is why, in most cases, there is no such thing as a single gene for a specific phenotype, meaning an observable characteristic. Nevertheless, some genes have surprising effects, such as the one studied by the University of California in Los Angeles, with the unappealing name CDKN1C. An analysis pointed out that variations in this gene can make you both smaller and bigger.

Overgrowth syndrome
CDKN1C is no stranger to geneticists, as a mutated form has been previously implied in Beckwith-Wiedemann syndrome. This condition can cause enlargement of body parts and increase risk of tumours, and is also known as overgrowth syndrome. However, analysis of DNA samples from patients suffering from something called Image syndrome showed that they have a variation in the CDKN1C gene as well. And Image happens to be something that decreases growth of unborn children, eventually leading up to potentially lethal growth retardation of organs, as well as a decrease in body size.

Because the gene seems to be an underlying factor for both syndromes, it is clear that CDKN1C is carrying an interesting dual function in the body. Changes can cause both an increase and decrease in growth. Because the scientists merely found a correlation between a mutation in the gene and the presence of the aforementioned Image syndrome, it remains unknown what the underlying mechanism behind this duality is. Future studies will be needed to unravel the exact causes, and could lead to potential treatment for patients with growth malfunctions.

It is not the first time genes have yielded surprising results, as a previous study pointed out that a single gene can both cause and prevent cancer. While scientists have discovered what many genes do, some being more important than others, it seems that different situations can result in totally different behaviour. It is well-known that mutations causing the blueprint of the gene to change can have their effect on protein level: when changing the genetic code, proteins can become dysfunctional, or their newfound structure can cause its functionality to change. It is however peculiar that a single gene can have totally the opposite effect when variation arises. 

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