British Heart Foundation (BHF) Professor Bernard Keavney, from The University of Manchester and Newcastle University, led the research which saw investigators from Newcastle, Nottingham, Oxford and Leicester universities in the UK, together with colleagues in Europe, Australia and Canada pool resources to discover a gene in babies born with a hole in the heart. Congenital Heart Disease (CHD) is the most common form of congenital malformation, occuring in 7 in 100 babies and is one of the major causes of childhood death and illness. In around 20% of cases, a predisposing cause can be identified, but for the rest of the patients, scientists couldn't identify the genes. The scientists looked at over 2,000 CHD patients and measured over 500,000 genetic markers which vary in the general population and compared those makers in the patients to those of people in good health. They found that a common genetic variation near a gene called MSx1 was strongly associated with the risk of Atrial Septal Defect (hole in the heart). It is estimated that 10% of ASD cases may be due to the MSx1 gene. Researcher could not find a genetic marker that was common in all types of CHD though but Professor Keavney is optimistic that further research and conducting larger studies will lead them to find genes that cause other types of CHD and that the studies may help them give better genetic counselling to high risk families.
NOS Themes:
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- The Role of Curiosity
- Science is tentative
- Science is based on evidence
- Science is experimental
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I looked up some information about the MSx1 Gene and found out that it is located on Chromosome 4 and it's main purpose is to provide instructions to make proteins that regulate the activity of other genes.The gene and others close to it are also necessary is the early development of many important body structures.
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