Werner syndrome
Encyclopedia
Werner syndrome is a very rare, autosomal
recessive disorder characterized by the appearance of premature aging
.
Werner syndrome more closely resembles accelerated aging
than any other segmental progeria
, so it is often referred to as a progeroid syndrome, as it partly mimics the symptoms of progeria
.
, a German scientist, who, as a student, described the syndrome as part of his doctoral thesis in 1904.
Werner syndrome is an autosomal recessive disorder. The WRN gene associated with Werner Syndrome lies on chromosome 8 in humans and it is the only gene known to be associated with Werner syndrome. The disease is caused by a mutation in the WRN gene
, (or RECQL2) which codes a DNA helicase that functions 3'
5' as well as base exertion properties that also function in the same direction. Increased telomere
attrition and genomic instability have been observed in Werner syndrome, and rapid telomere
decay is thought to play a causal role in the clinical and pathological manifestations of the disease. The process by which the mutant WRN gene promotes telomere instability is unknown.
, cataract
s, hypogonadism
, cancer
, and atherosclerosis
. Werner causes a "bird-like" pinch to the nose
.
or cancer
supplementation was found to reverse the premature aging and several tissue dysfunctions in a genetically modified mouse model of the disease. Vitamin C supplementation also appeared to normalize several age-related molecular markers such as the increased levels of the transcription factor NF-κB. Vitamin C decreases activity of genes activated in human Werner syndrome, and increases gene activity involved in tissue repair. Vitamin C supplementation is suspected to be beneficial in the treatment of human Werner syndrome, although there was no evidence of anti-aging activity in nonmutant mice.
, the victim had Werner syndrome.
Werner syndrome was featured in the film Jack, starring Robin Williams
, in which his character aged four times faster than normal.
In one of the earliest cut scenes in the game Metal Gear Solid 4
Hal "Otacon" Emmerich cites "classic Werner syndrome" as the most likely cause of Solid Snake
's premature aging.
In season 3 episode 9, " The Ballad of Kevin and Tess", of TV show The 4400
, Kevin is said to have Werner syndrome to hide his real condition from the public.
Autosome
An autosome is a chromosome that is not a sex chromosome, or allosome; that is to say, there is an equal number of copies of the chromosome in males and females. For example, in humans, there are 22 pairs of autosomes. In addition to autosomes, there are sex chromosomes, to be specific: X and Y...
recessive disorder characterized by the appearance of premature aging
Senescence
Senescence or biological aging is the change in the biology of an organism as it ages after its maturity. Such changes range from those affecting its cells and their function to those affecting the whole organism...
.
Werner syndrome more closely resembles accelerated aging
Accelerated aging disease
A DNA repair-deficiency disorder is a medical condition due to reduced functionality of DNA repair.DNA repair defects are seen in nearly all of the diseases described as accelerated aging disease, in which various tissues, organs or systems of the human body age prematurely...
than any other segmental progeria
Progeria
Progeria is an extremely rare genetic condition wherein symptoms resembling aspects of aging are manifested at an early age. The word progeria comes from the Greek words "pro" , meaning "before", and "géras" , meaning "old age"...
, so it is often referred to as a progeroid syndrome, as it partly mimics the symptoms of progeria
Progeria
Progeria is an extremely rare genetic condition wherein symptoms resembling aspects of aging are manifested at an early age. The word progeria comes from the Greek words "pro" , meaning "before", and "géras" , meaning "old age"...
.
History
Werner syndrome is named after Otto WernerOtto Werner
C. W. Otto Werner was a German physician, after whom Werner syndrome —a form of progeria—was named. As a medical student in 1903, Werner observed the syndrome in four siblings near the age of 30. He documented his observations in his inaugural dissertation in 1904.Werner was born in Flensburg,...
, a German scientist, who, as a student, described the syndrome as part of his doctoral thesis in 1904.
Genetics
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
, (or RECQL2) which codes a DNA helicase that functions 3'
5' as well as base exertion properties that also function in the same direction. Increased telomereTelomere
A telomere is a region of repetitive DNA sequences at the end of a chromosome, which protects the end of the chromosome from deterioration or from fusion with neighboring chromosomes. Its name is derived from the Greek nouns telos "end" and merοs "part"...
attrition and genomic instability have been observed in Werner syndrome, and rapid telomere
Telomere
A telomere is a region of repetitive DNA sequences at the end of a chromosome, which protects the end of the chromosome from deterioration or from fusion with neighboring chromosomes. Its name is derived from the Greek nouns telos "end" and merοs "part"...
decay is thought to play a causal role in the clinical and pathological manifestations of the disease. The process by which the mutant WRN gene promotes telomere instability is unknown.
Onset
Although the symptoms manifest after 10 years, the earliest person diagnosed was six years old. Following puberty, they age rapidly, so that by age 40, they often appear several decades older.Symptoms
The signs of Werner syndrome are: lack of teenage growth spurt, graying of hair, hoarseness of the voice, thickening of the skin, diabetes mellitusDiabetes mellitus
Diabetes mellitus, often simply referred to as diabetes, is a group of metabolic diseases in which a person has high blood sugar, either because the body does not produce enough insulin, or because cells do not respond to the insulin that is produced...
, cataract
Cataract
A cataract is a clouding that develops in the crystalline lens of the eye or in its envelope, varying in degree from slight to complete opacity and obstructing the passage of light...
s, hypogonadism
Hypogonadism
Hypogonadism is a medical term for decreased functional activity of the gonads. Low testosterone is caused by a decline or deficiency in gonadal production of testosterone in males...
, cancer
Cancer
Cancer , known medically as a malignant neoplasm, is a large group of different diseases, all involving unregulated cell growth. In cancer, cells divide and grow uncontrollably, forming malignant tumors, and invade nearby parts of the body. The cancer may also spread to more distant parts of the...
, and atherosclerosis
Atherosclerosis
Atherosclerosis is a condition in which an artery wall thickens as a result of the accumulation of fatty materials such as cholesterol...
. Werner causes a "bird-like" pinch to the nose
Human nose
The visible part of the human nose is the protruding part of the face that bears the nostrils. The shape of the nose is determined by the ethmoid bone and the nasal septum, which consists mostly of cartilage and which separates the nostrils...
.
Death
In people with Werner syndrome, death usually occurs by myocardial infarctionMyocardial infarction
Myocardial infarction or acute myocardial infarction , commonly known as a heart attack, results from the interruption of blood supply to a part of the heart, causing heart cells to die...
or cancer
Cancer
Cancer , known medically as a malignant neoplasm, is a large group of different diseases, all involving unregulated cell growth. In cancer, cells divide and grow uncontrollably, forming malignant tumors, and invade nearby parts of the body. The cancer may also spread to more distant parts of the...
Treatment
In 2010, vitamin CVitamin C
Vitamin C or L-ascorbic acid or L-ascorbate is an essential nutrient for humans and certain other animal species. In living organisms ascorbate acts as an antioxidant by protecting the body against oxidative stress...
supplementation was found to reverse the premature aging and several tissue dysfunctions in a genetically modified mouse model of the disease. Vitamin C supplementation also appeared to normalize several age-related molecular markers such as the increased levels of the transcription factor NF-κB. Vitamin C decreases activity of genes activated in human Werner syndrome, and increases gene activity involved in tissue repair. Vitamin C supplementation is suspected to be beneficial in the treatment of human Werner syndrome, although there was no evidence of anti-aging activity in nonmutant mice.
Popular culture
On the episode "Stargazer in a Puddle" from the series BonesBones (TV series)
Bones is an American crime drama television series that premiered on the Fox Network on September 13, 2005. The show is based on forensic anthropology and forensic archaeology, with each episode focusing on an FBI case file concerning the mystery behind human remains brought by FBI Special Agent...
, the victim had Werner syndrome.
Werner syndrome was featured in the film Jack, starring Robin Williams
Robin Williams
Robin McLaurin Williams is an American actor and comedian. Rising to fame with his role as the alien Mork in the TV series Mork and Mindy, and later stand-up comedy work, Williams has performed in many feature films since 1980. He won the Academy Award for Best Supporting Actor for his performance...
, in which his character aged four times faster than normal.
In one of the earliest cut scenes in the game Metal Gear Solid 4
Metal Gear Solid 4: Guns of the Patriots
is a video game developed by Kojima Productions for the PlayStation 3 console. The game was directed by Hideo Kojima and made its worldwide release on June 12, 2008, ten years after the release of Metal Gear Solid and twenty years after the North American release of Metal Gear.Guns of the Patriots...
Hal "Otacon" Emmerich cites "classic Werner syndrome" as the most likely cause of Solid Snake
Solid Snake
Metal Gear, initially released in 1987, introduces Solid Snake, the rookie recruit of the elite special-forces unit FOXHOUND. Snake is sent by team leader Big Boss into the rogue nation Outer Heaven to rescue his missing teammate Gray Fox and discover who or what the "METAL GEAR" mentioned is, and...
's premature aging.
In season 3 episode 9, " The Ballad of Kevin and Tess", of TV show The 4400
The 4400
The 4400 is a science fiction TV series produced by CBS Paramount Network Television in association with Sky Television, Renegade 83, and American Zoetrope for USA Network. The show was created and written by Scott Peters and René Echevarria, and it stars Joel Gretsch and Jacqueline McKenzie...
, Kevin is said to have Werner syndrome to hide his real condition from the public.
See also
- Accelerated aging diseaseAccelerated aging diseaseA DNA repair-deficiency disorder is a medical condition due to reduced functionality of DNA repair.DNA repair defects are seen in nearly all of the diseases described as accelerated aging disease, in which various tissues, organs or systems of the human body age prematurely...
- BiogerontologyGerontologyGerontology is the study of the social, psychological and biological aspects of aging...
- Cockayne syndromeCockayne syndromeCockayne syndrome is a rare autosomal recessive, congenital disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight , and premature aging...
- DNA repairDNA repairDNA repair refers to a collection of processes by which a cell identifies and corrects damage to the DNA molecules that encode its genome. In human cells, both normal metabolic activities and environmental factors such as UV light and radiation can cause DNA damage, resulting in as many as 1...
- Degenerative diseaseDegenerative diseaseA degenerative disease, also called neurodegenerative 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...
- Genetic disorderGenetic disorderA genetic disorder is an illness caused by abnormalities in genes or chromosomes, especially a condition that is present from before birth. Most genetic disorders are quite rare and affect one person in every several thousands or millions....
- Life extensionLife extensionLife extension science, also known as anti-aging medicine, experimental gerontology, and biomedical gerontology, is the study of slowing down or reversing the processes of aging to extend both the maximum and average lifespan...
- ProgeriaProgeriaProgeria is an extremely rare genetic condition wherein symptoms resembling aspects of aging are manifested at an early age. The word progeria comes from the Greek words "pro" , meaning "before", and "géras" , meaning "old age"...
- SenescenceSenescenceSenescence or biological aging is the change in the biology of an organism as it ages after its maturity. Such changes range from those affecting its cells and their function to those affecting the whole organism...
- Xeroderma pigmentosumXeroderma pigmentosumXeroderma pigmentosum, or XP, is an autosomal recessive genetic disorder of DNA repair in which the ability to repair damage caused by ultraviolet light is deficient. In extreme cases, all exposure to sunlight must be forbidden, no matter how small. Multiple basal cell carcinomas and other skin...
- List of cutaneous conditions
External links
This article incorporates public domain text from The U.S. National Library of Medicine- Werner syndrome at libero.it
- DNA Repair at rcn.com
- Segmental Progeria at benbest.com
- WRN at the GenAge database.