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Encyclopedia > Werner's syndrome

Werner syndrome is a very rare, An autosome is a non-sex chromosome. It is an ordinary paired chromosome that is the same in both sexes of a species. For example, in humans, there are 22 pairs of autosomes. The X and Y chromosomes are not autosomal. Non_autosomal chromosomes are usually referred to as sex chromosomes... autosomal 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). Every person has two copies of every gene, one from mother and one from... recessive disorder whose most recognizable characteristic is premature aging. For this reason, Werner syndrome is often referred to as a progeroid syndrome, as it partly mimics the symptoms of Progeria is an extremely rare genetic condition which causes physical changes that resemble greatly accelerated aging in sufferers. It is an autosomal recessive condition that affects around 1 in 8 million newborns. Currently, approximately forty people have been diagnosed with this disease. The average lifespan of a child with Progeria... Progeria.


Individuals with Werner syndrome age rapidly following puberty, so that by the time they reach age 40 they often appear as though they are several decades older. Patients with Werner sydrome also exhibit genomic instability, Hypogonadism is a medical term for a defect of the reproductive system which results in lack of function of the gonads (ovaries or testes). The gonads have two functions: to produce hormones (testosterone, estradiol, antimullerian hormone, progesterone, inhibin B), activin and to produce gametes (eggs or sperm). Deficiency of sex... hypogonadism, and various age-associated disorders; these include For other uses, see Cancer (disambiguation). When normal cells are damaged or old they undergo apoptosis; cancer cells, however, avoid apoptosis. Cancer is a group of diseases characterized by uncontrolled cell division leading to growth of abnormal tissue. It is believed that cancers arise from both genetic and environmental factors... cancer, Coronary heart disease (CHD), also called coronary artery disease (CAD) and atherosclerotic heart disease, is the end result of the accumulation of atheromatous plaques within the walls of the arteries that supply the myocardium (the muscle of the heart). While the symptoms and signs of coronary heart disease are noted... heart disease, Atherosclerosis is a disease of arterial blood vessels. Venous vessels are not involved unless surgically moved to function as an artery. Atherosclerosis is commonly referred to as a hardening of blood vessels, but this is an over_simplification. Vascular lesions known as atheromatous plaques or atheromata (singular: atheroma) are formed in... atherosclerosis, This article is about the disease that features high blood sugar. The other major but far less common diabetes is diabetes insipidus (water diabetes, DI). Diabetes mellitus is a medical disorder characterized by varying or persistent hyperglycemia (elevated blood sugar levels), especially after eating. All types of diabetes mellitus share... diabetes mellitus, and Cataract is also used to mean a waterfall or where the flow of a river changes dramatically. It comes from the Greek word meaning downrush or to dash down or the Latin cataract meaning a waterfall, a floodgate or a portcullis. Normal vision. Courtesy NIH National Eye Institute The same... cataracts. However, not all characteristics of old-age are present in Werner patients; for instance, Dementia (from Latin demens) is progressive decline in cognitive function due to damage or disease in the brain beyond what might be expected from normal aging. Particularly affected areas may be memory, attention, language and problem solving, although particularly in the later stages of the condition, affected persons may be... senility is not seen in individuals with Werner syndrome. The average age at death of Werner patients is 47, usually as a result of 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. Some populations do seem more suceptible to Werner syndrome. These include individuals of The term Ethnic Japanese usually refers to people who live outside Japan, who either emigrated from Japan or are descendants of a person who emigated from Japan. The majority of them live in regions such as: United States, mostly California and Hawaii Brazil There is a small ethnic Japanese community... Japanese descent.


In 1996 the gene responsible for Werner syndrome was identified (and named WRN) and found to be a member of the RecQ helicase is a family of helicase enzymes which unwind DNA for replication, transcription and repair. Mutations in the genes responsible for them are believed to be responsible for several disorders: Bloom syndrome: BLM gene Rothmund-Thompsons syndrome: RECQ4 gene Werner syndrome: WRN gene External links RecQ Helicases, introduction... RecQ family of Helicase is an enzyme vital to all living organisms. Its function is to temporarily separate the two strands of a DNA double helix so that DNA or RNA synthesis can take place. RNA polymerase has its own helicase activity, whereas in DNA polymerase the helicase is a separate subunit. Helicase... helicases. Other members of this family include the genes responsible for Bloom syndrome is a genetic condition characterized by prenatal growth delay and a butterfly rash in the mid-face region. The most serious characteristics of this condition are a predisposition to cancer and infections. Intelligence is unsually not affected in this disorder, although mild mental retardation has been seen in... Bloom syndrome (BLM gene), and a subset of Rothmund-Thomson (RECQ4 gene) patients.


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) is one pathway that can be used to repair double-stranded DNA breaks. It is non-homologous because no homolgoy is required between the joined DNA strands. NHEJ is the predominant repair pathway in mammals, but in other organisms such as yeast, homolgous recombination predominates... non-homologous end joining (NHEJ) and the restoration of stalled replication forks have also been suggested.


Werner syndrome is named after Otto Werner, a German student who described the syndrome as part of his doctoral thesis in the early 1900's.


  Results from FactBites:
 
Werner syndrome - Wikipedia, the free encyclopedia (604 words)
For this reason, Werner syndrome is often referred to as a progeroid syndrome, as it partly mimics the symptoms of Progeria.
Werner syndrome is estimated to affect 1 in 200,000 individuals in the United States.
Werner syndrome is named after Otto Werner, a German student who described the syndrome as part of his doctoral thesis in 1904.
Werner syndrome definition - Medical Dictionary definitions of popular medical terms (365 words)
The characteristic features of Werner syndrome include short stature, premature graying and balding, wizened face, beaked nose, cataracts, scleroderma-like skin changes (especially in the extremities), subcutaneous calcification (deposits of calcium beneath the skin), premature arteriosclerosis, muscular atrophy and tendencies to diabetes mellitus and to tumors (especially, osteosarcoma and meningioma).
The gene for Werner syndrome, symbolized WRN, is on chromosome 8 (in the region of bands 8p12-p11.2.
Werner syndrome has nothing whatsoever to do with Werner-His disease which is a louse-borne illness first recognized in the trenches of World War I and so named trench fever.
  More results at FactBites »


 

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