Beneficial Mutations

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  • Mutations get a bum rap. Their connotation is uniformly negative and for good reason. For example, smokers with lung tumors have more than twenty thousand mutations in the DNA of their cancer cells. But what if your mutation actually saves your life?

    One man who lost most of his relatives and siblings to an early form of Alzheimer's has the same genetic mutation. But he's ticking along in his sixties symptom-free decades past those he's lost. There are other examples and scientists are now seizing on this potential goldmine of information. They're studying these individuals and embarking on a new approach in their search for cures.

    Rather than focus on the gene mutation that's causing an illness and figuring out how to fix it, researchers are identifying a second mutation that negates the disease causing gene. They're studying people whose mutations protect them against Alzheimer's, heart disease, diabetes, and HIV.

    Scientists have already identified alterations in certain genes that can partially protect people from disease. As they identify more of these compensatory mutations, hopefully we can begin to understand how they block the disease process.

    It's not too far a leap to imagine producing new drugs that counteract the negative effects of mutated genes by simulating the actions arising from a beneficial mutation. This comes under the category that nature itself is the best genetic engineer! By following it, we should expect new insights and therapies for diseases that for now are too difficult to treat.