1st-of-its-kind database reveals how DNA mutations ‘destabilize’ proteins, triggering genetic disease
For the first time, scientists have created a database that details how hundreds of thousands of genetic mutations disrupt the function of proteins, leading to disease.
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Scientists have created a mega-database revealing how half a million different DNA mutations generate errors in proteins in humans. The researchers hope that the database will be used to develop new, personalized drugs that directly reverse the mutations' effects.The human genome carries instructions for at least 20,000 proteins, which are essential for nearly all physiological processes. Each building block of a protein — called an amino acid — is key to its function, and thus, swapping around the amino acids can essentially break a protein. "Missense" mutations — changes in...
