Mutations need a second type of genetic factors to induce a disease
Why mutations cause disease in some people but not in others? - science news daily in brief

Genetic mutations trigger diseases in some individuals but not in others, a phenomenon called variable penetrance. Why this is the case is a mystery in biology. Now, a new study came with a potential explanation. It turns out that some genetic variants exist, with the ability to modify the disease risk caused by various mutations. The mutations need this “extra” genetic factors to be able to induce a disease. “Our findings suggest that a person’s disease risk is potentially determined by a combination of their regulatory and coding variants, and not just one or the other,” Dr. Lappalainen said. Using the CRISPR/Cas9 genome editing technology the scientists tested and approved their theory using a cell culture model. The study should allow for a more precise evaluation of the risk of coding variants associated with diseases.

Read the full story: Columbia Systems Biology
Scientific publication: Nature Genetics