The error was found in the DNA sequence of the gene ZCCHC8, and it decreases by half the production of a protein needed to keep those caps -- called telomeres -- at a critical length, say the researchers. The finding, they add, means the flaw likely will become part of a small but growing list of diagnostic markers for so-called short telomere syndromes.
A report on the work, which focused on the disease known as idiopathic pulmonary fibrosis (IPF) was published online Sept. 5 in the journal Genes & Development.
Approaches - Efforts - Cause - Disease - Biology
"Combining clinical and molecular approaches can be very powerful in efforts to understand the cause of genetic disease and its biology," says Mary Armanios, M.D., professor of oncology at the Johns Hopkins Kimmel Cancer Center and clinical director of the Telomere Center at Johns Hopkins. "We're finding that there are many gene pathways that can disturb telomere length regulation." Over the past 15 years, Armanios has identified five of seven telomere-related genetic errors in families with pulmonary fibrosis. Now, there is an eighth, she says.
IPF occurs in approximately 100,000 people in the U.S., says Armanios, and creates lung scarring not attributed to smoking or other environmental factors. An estimated one in five people with IPF are thought to have a hereditary form of the disease, and half of those cases are linked to an inherited tendency for very short telomeres.
Telomeres - Ends - DNA - Plastic - Tubes
Telomeres protect the ends of chromosomal DNA like the plastic tubes on the ends of shoelaces, and they normally shorten with aging. Made up of repetitive sequences of DNA, normal telomeres have enough length to withstand the erosion that occurs over a normal lifespan. However, some people are born with abnormally short telomeres, causing problems with the cells' ability to divide and multiply, and leading to an assortment of disorders including IPF, bone...
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