Enzymes May Help Curb Disease Such as Cancer
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Enzymes May Help Curb Disease Such as Cancer, Cystic Fibrosis and Hemophilia MBD4 Enzyme Could Protect People from Gene Mutations that Can Lead to Diseases Jul. 19, 2002 (Ivanhoe Newswire) -- New research shows an enzyme that corrects mutations in genes could be a key factor in reducing a person's susceptibility to diseases such as hemophilia, cancer and cystic fibrosis. Researchers from Cardiff University in Wales and the University of Edinburgh in Scotland have found the MBD4 enzyme could protect people from gene mutations that can lead to diseases. Different combinations of genes are expressed in different cells. For example, a different combination of genes is expressed in heart cells as compared to liver cells. Researchers say mutations in these genes can lead to serious diseases, such as cancer. They say, although factors such as cigarette smoke and dietary habits may trigger genetic mutations, a lot of gene damage is caused simply by the natural chemistry that goes on in the human body. When a mutation occurs, the genes stop doing their "jobs" effectively. Researchers say one in three genetic changes or mutations that causes disease in people can be attributed to methyl-groups. Methyl-groups work to shut down genes, but in doing so significantly increase the risk of genetic mutation. Researchers have found the MBD4 enzyme attempts to repair the damage caused by methyl-groups before they cause harm. Alan Clarke, a researcher from Cardiff University, says, "It is very likely the MBD4 is a key defense against self-inflicted gene damage in humans." In this study of lab animals, Professor Clarke and fellow researchers found mice lacking the MBD4 enzyme are up to three times more likely to have genetic mutations. Authors of the study conclude, "These findings suggest that human MBD4 plays a similarly important role in reducing inherited disease and cancer." Enzymes Could Aid Cancer Fight Scientists who have identified an enzyme which corrects gene mutations in humans say it may play a significant role in reducing people's susceptibility to serious diseases such as hemophilia, cystic fibrosis and cancer. Teams at Cardiff University, Wales, and the University of Edinburgh, Scotland, who discovered a gene repair mechanism called the MBD4 enzyme in 1999, have now found that gene mutations are up to three times more common in mice lacking the MBD4 enzyme. The findings of the research, led by Professor Adrian Bird of the Institute of Cell and Molecular Biology at Edinburgh and Professor Alan Clarke in the School of Biosciences at Cardiff, will be published in the journal Science on Friday 19 July. Around 35,000 protein-coding genes are involved in the design of our bodies. All of these genes are present in every cell of the body, but not all of them are active or 'expressed' (able to build proteins). The pattern of active genes in a particular cell will determine its characteristics. Different combinations of genes will, for example, be expressed in heart cells and liver cells, but patterns will also differ between healthy skin cells and cancerous skin cells. Gene mutations can be caused by environmental factors such as cigarette smoke or sunlight, but, surprisingly, much gene damage is caused by the risky natural chemistry that goes on in the cells of our bodies. Genes carry the instructions for making proteins, which perform the essential processes of life, but many serious diseases like cancer are caused by accidental changes in these instructions which stop the resulting protein from doing its job properly. The riskiest process of all is the practice of shutting down genes (so that they do not make their proteins) by marking them with chemical switches called methyl-groups. They work well for gene silencing, but in doing so they greatly increase the chances of mutation. One in three genetic changes that cause human disease can be attributed to methyl groups. No amount of care in avoiding harmful agents in food or air can escape this problem, which goes with being alive. The researchers have discovered that the MBD4 enzyme tries to repair the damage caused by methyl-groups before it can do harm. Professor Clarke said: "It is very likely the MBD4 is a key defense against self-inflicted gene damage in humans. Humans are complicated chemical machines, and we have evolved to use certain chemical tricks to control gene expression - which unfortunately have a significant down-side in terms of gene damage. As humans we therefore had to invent a tool kit to repair the damage, and what we show here is that loss of part of that tool kit can increase the risk of developing cancer."
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