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Werner syndrome is a very rare, autosomal recessive disorder; its 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. This condition is inherited in an autosomal recessive pattern. The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ...
The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. ...
The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ...
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An autosome is a non-sex chromosome. ...
In genetics, the term recessive gene refers to an allele that causes a phenotype (visible or detectable characteristic) that is only seen in a homozygous genotype (an organism that has two copies of the same allele). ...
It has been suggested that Longevity genes be merged into this article or section. ...
In medicine, an accelerated aging disease is a genetic disorder in which various tissues, organs or systems of the human body age prematurely. ...
The term Progeria narrowly refers to Hutchinson-Gilford Progeria syndrome, but the term is also used more generally to describe any of the so-called accelerated aging diseases. The word progeria is derived from the Greek for prematurely old. Because the accelerated aging diseases display different aspects of aging, but...
The term Progeria narrowly refers to Hutchinson-Gilford Progeria syndrome, but the term is also used more generally to describe any of the so-called accelerated aging diseases. The word progeria is derived from the Greek for prematurely old. Because the accelerated aging diseases display different aspects of aging, but...
For a non-technical introduction to the topic, see Introduction to Genetics. ...
The structure of part of a DNA double helix Deoxyribonucleic acid, or DNA, is a nucleic acid molecule that contains the genetic instructions used in the development and functioning of all known living organisms. ...
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Figure 1: A representation of a condensed eukaryotic chromosome, as seen during cell division. ...
It has been suggested that DNA replicate, Replisome, Replication fork, Lagging strand, Leading strand be merged into this article or section. ...
In genetics, the term recessive gene refers to an allele that causes a phenotype (visible or detectable characteristic) that is only seen in a homozygous genotype (an organism that has two copies of the same allele). ...
Symptoms
Individuals with this syndrome typically grow and develop normally until they reach puberty. Following puberty they age rapidly, so that by age 40 they often appear 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 of the voice, 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 syndrome 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 do not live past their late forties or early fifties, often dying from the results of cancer or heart disease. Puberty refers to the process of physical changes by which a childs body becomes an adult body capable of reproduction. ...
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Hypogonadism is a medical term for a defect of the reproductive system which results in lack of function of the gonads (ovaries or testes). ...
Cancer is a class of diseases or disorders characterized by uncontrolled division of cells and the ability of these to spread, either by direct growth into adjacent tissue through invasion, or by implantation into distant sites by metastasis (where cancer cells are transported through the bloodstream or lymphatic system). ...
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For the disease characterized by excretion of large amounts of very dilute urine, see diabetes insipidus. ...
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Epidemiology Werner syndrome is an exceedingly rare disorder. Internationally, WS is thought to be more common in Japan and Sardinia than in other populations. It is understood that approximately 1000 cases have been reported in the world over several decades; more than 800 of these cases were reported in Japan. Most of the reported Japanese cases were from the consultation of dermatologists.
Genetics In 1997 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 Image File history File links No higher resolution available. ...
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WRN (Werner syndrome) is a human gene that provides instructions for producing Werner protein, which is a type of enzyme called a helicase. ...
RecQ helicase is a family of helicase enzymes which unwind DNA for replication, transcription and repair. ...
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Bloom syndrome is a rare inherited disorder characterized by a high frequency of breaks and rearrangements in an affected persons chromosomes, discovered and first described by dermatologist Dr. David Bloom in 1954. ...
Rothmund-Thompsons syndrome is a hereditary and familial disease characterized by short stature, cataracts, pigmentation of skin, baldness, abnormalities of bones, nails and teeth. ...
A representation of the 3D structure of myoglobin, showing coloured alpha helices. ...
It has been suggested that DNA replicate, Replisome, Replication fork, Lagging strand, Leading strand be merged into this article or section. ...
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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. A Holliday junction is a mobile junction between four strands of DNA. The structure is named after Robin Holliday, who proposed it in 1964 to account for a particular type of exchange of genetic information in yeast known as homologous recombination. ...
Non-homologous end joining (NHEJ) is one pathway that can be used to repair double-stranded DNA breaks. ...
The trait for Werner's Syndrome is auto-recessive.[1]
History Werner syndrome is named after Otto Werner, a German scientist, who, as a student, described the syndrome as part of his doctoral thesis in 1904. C. W. Otto Werner ( February 1, 1879 - 1936 ) was a German physician, after whom Werner syndrome (Werners syndrome), a form of premature aging (progeria adultoram) was named. ...
This article incorporates public domain text from The U.S. National Library of Medicine
See also In medicine, an accelerated aging disease is a genetic disorder in which various tissues, organs or systems of the human body age prematurely. ...
It has been suggested that aging research be merged into this article or section. ...
Cockayne syndrome is a rare disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging. ...
DNA damage resulting in multiple broken chromosomes DNA repair refers to a collection of processes by which a cell identifies and corrects damage to the DNA molecules that encode its genome. ...
A degenerative disease is a disease in which the function or structure of the affected tissues or organs will progressively deteriorate over time, whether due to normal bodily wear or lifestyle choices such as exercise or eating habits. ...
A genetic disorder is a disease caused by abnormalities in genes or chromosomes. ...
Life extension refers to an increase in maximum or average lifespan, especially in humans, by slowing down or reversing the processes of aging. ...
The term Progeria narrowly refers to Hutchinson-Gilford Progeria syndrome, but the term is also used more generally to describe any of the so-called accelerated aging diseases. The word progeria is derived from the Greek for prematurely old. Because the accelerated aging diseases display different aspects of aging, but...
It has been suggested that Longevity genes be merged into this article or section. ...
This article does not cite any references or sources. ...
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