This is Science Today. Researchers at the Lawrence Berkeley National Laboratory might have found what causes cardiomyopathy, a genetic heart disease. According to scientist Diane Dickel, that is an important discovery because doctors don't know what triggers this disease in half the patients. And that may be because researchers were looking for clues in the wrong part of the genome.
“Only about 3 percent of the genome consists of genes, the other 95 percent of the genome – what we call non coding, which just means that it does not encode genes. And it is clear there are important things in that non-coding sequence. ”
So it is the mutations in these non-coding sequences - called enhancers - that causes genetic diseases.
“These enhancer elements regulate gene expression. They are like switchers that tell the genes when and where to turn off and on.”
Dickel says this discovery sheds light on the unknown parts of the genome and will help improve clinical diagnosis.
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