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Alpha 1-antitrypsin deficiency
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Benign Infantile Epilepsy
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Duchenne Muscular Dystrophy
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Michael and Jonathan
Nature of the Genetic Difficulty
There is no known cause of WS, but 90% of all afflicted persons have a lethal mutation in the WRN gene in chromosome 8. The WRN gene is found on chromosome 8, position 12-11.2 (8p12-p11.2). In gene expression, the WRN gene encodes for a member of the RecQ family helicases. These helicases unwind DNA’s double helix during replication, repair, recombination, transcription, and chromosomal segregation. When the DNA is unable to unwind, these vital processes are halted.
Basis Facts of Disease
1. This genetic disorder occurs when two recessive mutated genes are passed on, one from each parent. However, parents do not have to show Werner’s Syndrome to pass the gene on, but only the gene.
2. It happens 1 in 200,000 in the US, 1 in 20,000 – 1 in 40,000 for Japan and Sardinia, 1 in a million worldwide.
3. Japanese and Italians that live on Sardinia are mainly affected by this disorder.
4. Symptoms include premature aging, seen after puberty or in the mid 30s; scleroderma: overproduction of collagen fibers, affecting the face, joints, muscles, blood vessels, heart, lungs, kidneys, and the esophagus; arteriosclerosis: hardening and thickening of the artery walls, narrowing blood vessels and decreasing blood flow; diabetes: lack of insulin in the body; endocrine disorders: lack of hormones in the blood; thyroid cancer; development of cataracts; retinal disorders
5. The gene is located on chromosome 8; treatment of skin ulcers, controlling type 2 diabetes, cholesterol-lowering drugs if high cholesterol is present, surgery for cataracts, treatment of malignancies, prevention of other problems (avoiding smoking, exercising regularly, weight control, skin care, avoiding skin injuries); Otto Werner, who discovered the disease, first noticed the disorder in four siblings nearing 30 years old.
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