While junk DNA has already been associated with bowel cancer, here is another discovery that possible highlights contribution of DNA in the disease’s development. An international research led by experts from The Institute of Cancer Research (ICR) has apparently revealed how a single variant in a person’s DNA can boost development of bowel cancer. It is believed that some people have an ‘A’ in their DNA code instead of a ‘G’ at a genetic variant called rs16888589. Such people may be producing more protein from a gene known as EIFH3.
The research findings show that increased levels of the eifh3 protein triggers development of bowel cancer. Previous analyses examining genome-wide link have supposedly laid hands on fourteen DNA variants. Each of these variants is assumed to elevate a person’s risk of bowel cancer by 1.5 – 2 fold. A person with more than one variant seems to have higher chances of developing the illness. These variants that are termed as single nucleotide polymorphisms (SNPs) are known to be a single letter change in the DNA code. It is the sequence of letters that probably acts as blueprint in humans.
Professor Richard Houlston, lead researcher from the ICR, remarked, “We know from other cancers that too much of the protein eifh3 leads to an increase in cell proliferation, growth and survival, but this is the first confirmation it is involved in bowel cancer development. It’s interesting that even a single change to the DNA sequence can alter how much protein is produced and increase the risk of this disease. Finding proteins involved in cancer development is crucial, as they are potential targets for new drugs.”
Experts elucidate that these genetic screens are able to distinguish variants linked to the disease, but are not necessarily responsible for causing it. So such variants may just be inherited simultaneously with the key DNA. Finding causative and not the associated genetic change can possibly help researchers understand biological process developing cancer in depth. The experts began the research by scrutinizing a variant on chromosome 8q23 that is believed to increase chances of bowel cancer by up to a 1.5-fold.
Dr Lesley Walker, Cancer Research UK’s director of science information, said, “This study is another important step towards understanding the gene faults that put some people at greater risk of bowel cancer, and it also gives us clues to how the disease develops. Research like this opens up new possibilities for identifying people with a higher risk of bowel cancer, and for developing new treatments that target cancers with particular genetic faults.”
In the process of investigations, scientists re-sequenced 22,000 bases (letters) of DNA around the variant. As a result, it was found that all the single letters in this region were different between individuals. After analyzing 2,000 people with bowel cancer and 2,000 people without the disease, investigators discovered more than 100 variants amongst which four SNPs were claimed to be exceptional. These SNPs were apparently found near EIFH3 gene, a region of DNA which is probably involved in switching the gene on or off. Further investigations enlightened the way one of these four variants called rs16888589 caused a change in amount of protein produced by EIFH3.
The research is published in the journal PLoS Genetics.