Sunday, 20 May 2012

Congenital Heart Disease Gene

Genetics in Congenital Heart Disease
Children are the future of society and therefore their health is paramount to the survival of our race. Recent genetic advances in the field of paediatrics have ensured that children have a greater chance of growing up disease free. (9)
One disease that has experienced rapid improvements in genetic analysis is congenital heart disease.(10) Occurring before birth, the foetus has structural problems with either blood vessels or the actual heart itself such as holes in the atrium or ventricles of the heart.(7)
Figure 1: Heart exhibiting structural problems such as a hole in the right atrium and left atrium due to congenital heart disease

However, through examining the common genome, scientific researchers have recently uncovered that congenital heart disease may have a universal gene. (9)
Known as CCDC40 or ‘coiled coil domain containing protein 40,’ this gene is essential for proper body development.(11) Activated in motile cilia cells, gene CCDC40 heavily influences growth in the body known as ‘right-to-left patterning,’ which occurs whilst tissues are growing.(10) If ‘right-to-left patterning’ experiences a defect, the heart can be located on the other side of the body or have no supporting arteries or blood vessels which is a fatal condition.(10)
However, in order to really determine that this gene was a contributing factor for congenital heart disease, testing was performed on mice and zebrafish. (10) Both animals possessed the CCDC40 gene and it was found that animals that did have this particular gene had a higher chance of developing anomalies in the ‘right-to-left system’ than animals that didn’t. (10)
Figure 2: Shows anomalies in the ‘right-to-left-patterning’ of a zebrafish and a mouse in terms of the atrium (A), ventricle (V), right lung (RL), left lung (LL), right ventricle (RV) and stomach (S).
Further examinations were performed under a special transition microscope to verify results.  It was found that mutation of the cilia cell which contained the gene CCDC40, had huge disruptions in structure; therefore supporting the theory that the malignant gene was linked to congenital heart disease in humans. (10)
According to WebMD (2012), ‘congenital heart disease affects 8-10 out of every 1,000 children.’ As mentioned previously the severity of this disease can vary from a problem that will heal on its own accord, to a complex issue that will require many years of surgery to fix and possibly be fatal.(8) Consequently, many different types of surgery can be performed, each carrying a high risk for the baby’s safety. (9)
Discoveries such as that of a common gene in congenital heart disease can lead to practicing what is commonly referred to as ‘personalised medicine or surgery’. (9) This phrase means that doctors will be able to read an individual’s gene and therefore determine which treatment is most beneficial and what medicine can achieve the best results for the patient.(9) Not only will this help to prevent deaths in patients who have extreme adverse reactions to specific treatment, but it will also allow paediatricians to identify the procedure that will produce optimum results for the child.(9)
Congenital heart disease is a very serious illness that can be potentially fatal in infants.(7) With the discovery of CCDC40, there is a greater chance of saving lives as doctors can prepare, specialise and condition specific types of surgery to adapt to individual patients with this disease. (6)  The discovery of this specific gene has furthermore enforced the importance of genetic research in the medical industry. 
Original Article:
Reference List
1.      American Heart Association 2010, Genetic Basis for Congenital Heart Defects: Current Knowledge, viewed 20 March 2012, <>.
2.      Campbell, N, Reece, J, Meyers, N, Urry, L, Cain, M, Wasserman, S, Minorsky, P & Jackson, R 2009, Biology, Pearson Education Australia Pty Ltd.
3.      Clark, J 2007, DNA, article, viewed 19 March 2012, <>.
4. 2012, Congenital Heart Disease, viewed 20 March, <>.
5.      Genetics Home Reference 2012, CCDC40, viewed 18 March, <>.
6.      Johns Hopkins Medicine 2012, Congenital Heart Treatment Procedures, viewed 19 March, <>.
7.      Mayo Clinic 2010, Congenital heart defects in children, viewed 19 March, <>.
8.      MedlinePlus 2012, Congenital heart disease, viewed 20 March 2012, <>.
9.      Ohlson, K 2011, ‘The Kids are Alright’, viewed 19 March 2012, <>.
10.  Princeton University 2010, Scientists find gene linked to congenital heart defect, viewed 18 March 2012, <>.
11.  Snustad, P & Simmons, M 2009, Principles of Genetics, 5th edn, Hoboken, New Jersey.
12.  WebMD 2012, Congenital Heart Disease, viewed 18 March 2012, <>.

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