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Werner Syndrome Bibliography
Werner Syndrome is a genetic disorder in which a child begins to rapidly age.
Also known as:
Hutchinson Gilford Syndrome and Progeria
How is Werner syndrome inherited?
Normally, every cell has two copies of each gene: one from the mother and one from the father. Werner syndrome follows a pattern in which a mutation must be present in both copies of the WRN gene for a person to be affected. This means that both parents must pass on a gene mutation for the child to be affected. This is known as the recessive inheritance pattern. The parents of an individual with Werner syndrome each carry one copy of the mutated gene, but usually do not show symptoms of the condition.
Werner Syndrome is inherited when the WRN gene from both mom and dad is mutated. Though the parents do not show the mutation, the child will.
What type of mutation causes this disorder?
What it the WRN gene?
WRN is a specific protein gene that is crucial to one’s DNA. This gene helps repair damaged DNA, replicate DNA, and maintain DNA structure. The WRN gene makes Helicase function. Helicase is an enzyme that works with the DNA by unwinding and taking apart the double stranded DNA. The WRN gene mainly focuses on protecting the DNA from any harm or potential damage. It also gives info on making the Werner protein.
What type of mutation causes this disorder?
In Werner’s syndrome, there has to be more than 60 different mutations in the WRN gene. If the WRN gene does become mutated, the Werner proteins that are produced by the cell have short qualities and are nonfunctional. These affected proteins then lead to the reduction in the amount of protein being generated by the cell. Without these fully functional Werner’s proteins, the regular DNA replication, transcription, and DNA restoration are interrupted.
Mutations to the WRN gene causes Werner's Syndrome to occur. The WRN gene plays a crucial role in cell division in the way of DNA replication.
What are some characteristics of this disorder?
Werner’s Syndrome is a dramatic, rapid appearance of features associated with normal aging.
People with Progeria, usually develop normally until puberty. Teenagers that have this syndrome do not have a growth spurt during puberty which makes them unusually short. The aging of people with Progeria begins usually around the age of twenty. At the age of twenty the victims will start to develop a hoarse voice, thin- hardened skin, and graying or loss of hair. Their facial appearance is said to be “bird- like”. People with this syndrome normally have skinny legs and arms but a larger torso and this is because of abnormal fat deposition. As the victims of this syndrome grow older they can develop disorders of aging earlier in their life. Some of these disorders are cloudy lenses which are also know as cataracts, skin ulcers, type two diabetes, diminished fertility, sever hardening of arteries which is know as atherosclerosis, thinning of the bones which is called osteoporosis, and some types of cancer. People with this syndrome usually live to their late forties or early fifties. The most common causes of death are cancer and the hardening of arteries.
Hutchinson Gilford has all of the symptomes at Progeria, except it affects children much younger. The child doesn't grow much taller than a five year old, and their average lifespan is thirteen years old.
Werner’s Syndrome affects 1 in 200,000 in the United States but is more common in Japan affecting 1 in 20,00 to 1 in 40,000.
: There are two branches of Werner's Syndrome. Progeria affects people a little later in life. Around puberty, diffrences between the people with Progeria begin to come apparent. They have a lifespan of forty to fifity year olds. Hutchinson Gilford has all of the same symptomes as Progeria, excpet the victims of it are much younger. Children with Hutchinson Gilford have a lifespan of thirteen. Both begin to develop appearences and ailments associated with aging.
Some Kids and Adults with Werner's Syndrome:
Treatments and Preventions
There are few treatments for the symptoms of Werner’s syndrome such as therapy for aggressive skin ulcers. Other treatments are controlling Type II diabetes mellitus. Treatments have been made to try restoring the WRN function in cells that may correct the molecular defects. There is no way to completely prevent Werner’s syndrome but there are some precautions that patients can take. It is advised for patients and their families to get genetic counseling. Patients should also get screening for cancer and other associated diseases on a regular basis. Werner’s syndrome patients should avoid smoking and exercise as much as possible to avoid necessary weight gain. At the moment there is no cure for Werner’s syndrome.
There is no cure for Werner's syndrome, however there are treatments to help ease the pain of the symptomes.
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