Enzyme Corrects Human Gene Mutations

The findings were reported in the July 19, 2002, issue of Science.

The practice of shutting down genes by marking them with chemical switches called methyl groups greatly increases the chances of mutation. One out of every three genetic changes that cause disease can be attributed to methyl-groups. The researchers have discovered that the MBD4 enzyme tries to repair the damage caused by methyl-groups before the damage can do harm. They say the enzyme may play an important role in reducing the susceptibility to diseases such as hemophilia, cystic fibrosis, and cancer.

"Humans are complicated chemical machines, and we have evolved to use certain chemical tricks to control gene expression, and these unfortunately have a significant downside in terms of gene damage,” said Prof. Alan Clarke, of the School of Biosciences at Cardiff University (UK; www.cf.ac.uk). "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.” Prof. Clarke led the study, along with Prof. Adrian Bird of the University of Edinburgh (UK; www.ed.ac.uk).




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