These advances have led to increasingly extensive research into the proteins involved with the disease, potential drug treatments, care methods, and the gene itself.The condition was formerly called Huntingtons chorea, but this term has been replaced by Huntingtons disease because not all patients develop chorea and due to the importance of cognitive and behavioral problems. Society and culture
Ethics
Genetic testing for Huntingtons disease has raised several ethical issues. The issues for genetic testing include defining how mature an individual should be before being considered eligible for testing, ensuring the confidentiality of results, and whether companies should be allowed to use test results for decisions on employment, life insurance or other financial matters. There was controversy when Charles Davenport proposed in 1910 that compulsory sterilization and immigration control be used for people with certain diseases, including HD, as part of the eugenics movement. In vitro fertilization has some issues regarding its use of embryos. Some HD research has ethical issues due to its use of animal testing and embryonic stem cells.The development of an accurate diagnostic test for Huntingtons disease has caused social, legal, and ethical concerns over access to and use of a persons results. Many guidelines and testing procedures have strict procedures for disclosure and confidentiality to allow individuals to decide when and how to receive their results and also to whom the results are made available. Insurance companies and businesses are faced with the question of whether to use genetic test results when assessing an individual, such as for life insurance or employment.
Sclerosteosis is an autosomal recessive disorder characterized by bone overgrowth. It was first described in 1958 but given the current name in 1967. Excessive bone formation is most prominent in the skull, mandible and tubular bones. It can cause facial distortion and syndactyly. Increased intracranial pressure can cause sudden death in patients. It is a rare disorder that is most prominent in the Afrikaner population in South Africa (40 patients), but there have also been cases of American and Brazilian families. Cause
Sclerosteosis is caused by mutations in the gene that encode for the sclerostin protein. The sclerostin protein is necessary in inhibiting canonical wnt signalling. Wnt signalling results in increased osteoblast activity and RANKL synthesis, sclerostine therefore increases boneformation by indirectly inhibiting RANKL synthesis and thus osteoclast activitation. References
External links
These Superhumans Are Real and Their DNA Could Be Worth Billions
Sclerostin Inhibition in the Management of Osteoporosis
Effect of bone thickening on the skull area: need of skull removal