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Werner's syndrome

Werner syndrome is a very rare, autosomal recessive disorder whose most recognizable characteristic is premature aging. Werner's syndrome more closely resembles "accelerated aging" than any other "segmental progeria". For this reason, Werner syndrome is often referred to as a progeroid syndrome, as it partly mimics the symptoms of Progeria. The defect is on a gene that codes DNA helicase and it is located on the short arm of the 8th chromosome. As a result DNA replication is impaired in this syndrome. This condition is inherited in an autosomal recessive pattern. more...

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Individuals with this syndrome typically grow and develop normally until they reach puberty. Following puberty, they age rapidly, so that by the time they reach age 40 they often appear as though they are several decades older. The age of onset of Werner syndrome is variable, but an early sign is the lack of a teenage growth spurt, which results in short stature. Other signs and symptoms appear when affected individuals are in their twenties or thirties and include loss and graying of hair, hoarseness, thickening of the skin, and cloudy lenses (cataracts) in both eyes. Overall, people affected by Werner syndrome have thin arms and legs and a thick trunk. Affected individuals typically have a characteristic facial appearance described as "bird-like" by the time they reach their thirties. Patients with Werner sydrome also exhibit genomic instability, hypogonadism, and various age-associated disorders; these include cancer, heart disease, atherosclerosis, diabetes mellitus, and cataracts. However, not all characteristics of old-age are present in Werner patients; for instance, senility is not seen in individuals with Werner syndrome. People affected by Werner syndrome usually live into their late forties or early fifties, death often result from cancer or heart disease.


Werner syndrome is an exceedingly rare disorder, with some estimates suggesting that it afflicts approximately 1 in 1,000,000 individuals worldwide. Werner syndrome is estimated to affect 1 in 200,000 individuals in the United States. In Japan, the syndrome occurs more often, affecting between 1 in 20,000 and 1 in 40,000 people.


In 1996 the gene responsible for Werner syndrome was identified (and named WRN) and found to be a member of the RecQ family of helicases. Other members of this family include the genes responsible for Bloom syndrome (BLM gene), and a subset of Rothmund-Thomson (RECQ4 gene) patients. The Werner protein is thought to perform several tasks in the cell, including the maintenance and repair of DNA. It also assists in making copies of DNA in preparation for cell division. Mutations in the WRN gene often lead to the production of an abnormally short Werner protein. Some research suggests that this shortened protein is not sent to the nucleus, where it normally interacts with DNA. Evidence also suggests that the altered protein is broken down quickly in the cell, leading to a loss of Werner protein function

Research into the biological role of the WRN protein is ongoing, but current evidence strongly suggests a role for WRN in the resolution of Holliday junctions. Roles in non-homologous end joining (NHEJ) and the restoration of stalled replication forks have also been suggested.


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Fast-forward aging - Werner's syndrome
From Discover, 11/1/96 by Josie Glausiusz

Cataracts, osteoporosis, heart disease, and other such ills typically afflict only the aged. For the unfortunate sufferers of a disease called Werner's syndrome, however, these ailments strike not in the seventh or eighth decade of life but the third. Such people age abnormally fast and usually the before they reach 50.

Recently, molecular geneticist Gerard Schellenberg and his colleagues at the Veterans Affairs Medical Center in Seattle traced the gene that causes the disease to a site on chromosome 8. When they then compared the gene's DNA sequence with those of previously identified genes, they found that it closely matched genes known to code for a class of enzymes called helicases, which unwind the double helix of DNA.

Helicases - of which there are many different types - are crucial components of all living cells. They help repair DNA and enable messenger RNA molecules to ferry genetic instructions from the nucleus, where DNA resides, throughout the cell, where the instructions are biochemically translated into proteins. "Almost any cellular function that uses DNA or RNA is going to involve a helicase," says Schellenberg. "If you're going to replicate DNA, you've got to unwind the two strands before you can copy it; you've also got to unwind it before you can repair it. You've got to unwind it to transcribe it. When chromosomes segregate during cell division, you have to untangle a bunch of chromosomes, and that requires a helicase."

Schellenberg and his colleagues don't yet know exactly what role the new helicase plays within the cell. They suspect that the enzyme is not one that is essential to life but is somehow conducive to a long and healthy one. Its probably not required for DNA replication, because that would be lethal,,, he explains. On the other hand, it could be involved in DNA repair-or in preventing mutation during DNA synthesis. Of the two theories, Schellenberg favors the second, since tests have shown that damaged DNA from people with Werner's does seem capable of repairing itself Despite this, their DNA seems to accumulate mutations at a higher-than-normal rate. Perhaps, he speculates, die untangling of DNA that occurs prior to cell division goes awry-resulting in breaks in the DNA that amass over time and overwhelm the cells ability to fix them.

One possibility, Schellenberg says, is that accumulated DNA damage sooner or later interferes with die cells ability to divide. That could explain why skin cells from young people with Werner's have such a short shelf life@ when cultured, they go through very few cell divisions. in fact, their cells behave in the same way as those of the truly elderly.

Might it be possible someday to use a form of gene therapy to cure the disease? "Theoretically," says Schellenberg. "The problem is that people with Werner's syndrome have so many different organs that are messed up. So you'd have to give gene therapy all over the body. Trying to get a helicase into every cell in the body - I don't think its theoretically impossible - it's just so far over the horizon right now."

Understanding how the gene works, says Schellenberg, could also provide insight into normal aging. It may be that "normal" people carry variants of the gene that influence their life spans or predispose them to an earlier death - a possibility he is now investigating. It could be that those who carry one defective copy of the gene (unlike Werner's patients, who have two) may develop disorders associated with aging, like cancer, when the normal version of the gene is altered by some environmental factor - radiation or toxins, perhaps. Studying Werner's, he says, could help pinpoint the mechanism that underlies all diseases of aging, which appear in part to be due to the cell slowdown that is such a dramatic feature of this disease.

"The reason we're studying Werner's is so that we can get at that underlying mechanism," says Schellenberg. "When you see something go wrong, then you've got a handle on what happens when things go right."

COPYRIGHT 1996 Discover
COPYRIGHT 2004 Gale Group

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