Scientists show how mutation causes incurable premature aging disease
The study findings provide a drug target for the disease, said lead study author Jayakrishnan Nandakumar, assistant professor of molecular, cellular and developmental biology at the University of Michigan. The mutation compromises the function of an enzyme known as telomerase , which fuels stem cell division, he said. Stem cells must divide to repair old tissue. This mutation, which occurs in the telomere protein TPP1, causes stem cells to slow or stop dividing in people with this rare, incurable disease. This can cause tissue breakdown, premature aging, bone marrow failure, cancer and even death. Nandakumar and his U-M colleagues are believed to be the first to use genome editing technology called CRISPR/CAS9 to introduce a dyskeratosis congenita mutation into human cells. This gene editing technology is often described as a pair of molecular scissors, because it cuts DNA in precise locations to allow for additions, deletions and replacements of DNA near the cut. The acronym...