Rare gene mutation might block cancer-causing cell division
A genetic mutation linked to an uncommon disease that causes premature aging may be the key to developing drugs that can block the uncontrollable, unrelenting cell division of deadly cancers, U.S. researchers say.
In the disease known as dyskeratosis congenita, a protein mutation keeps stem cells known as hematopoietic cells from regenerating and making new blood, causing those with the condition to age prematurely.
They are also prone to cancers and the failure of the blood marrow, researchers say.
The mutation in DC sufferers inhibits the protein known as TPP1 from binding the enzyme telomerase to chromosomes, with a resulting reduction in the division of hematopoietic stem cells and the creation of blood supply.
However, researchers at the University of Michigan say that while DC patients suffer from a reduction in telomerase, the opposite effect is seen in the cells of cancer patients.
"Telomerase overproduction in cancer cells helps them divide uncontrollably, which is a hallmark of all cancers," says Jayakrishnan Nandakumar of the university's department of molecular, cellular, and developmental biology.
"Inhibiting telomerase will be an effective way to kill cancer cells," he suggests.
The findings show treatment possibilities for both DC patients and cancer patients, the researchers say; gene therapies might repair the protein mutation and kickstart cell division within DC patients, while drugs could be developed to inhibit the production of telomerase and slow or even stop cell division in cancer patients.
Given the progress made in human genome editing so far, repairing such mutations may be possible, according to Nandakumar.
The findings are further evidence of how devastating health consequences can arise from a single infinitesimal change in our genes. Taking out one amino acid in a chain of 544 amino acids can turn the chain into a disease, he adds.
While the exact incidence of dyskeratosis congenita -- also known as Zinsser-Cole-Engman syndrome -- is unknown, the National Institutes of Health estimates the condition occurs in around one in one million people.
The researchers' work was published in the journal Genes & Development.
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