Osteogenesis imperfecta Research

Osteogenesis imperfecta "Brittle Bone Disease"
By: Rylan S. Banks

Osteogenesis imperfecta is cause by a genetic mutation that affects the body's ability to make strong bones. 

In most case OI is caused by a dominant genetic defect (autosomal dominant) in the genes for making collagen. 

Type 1 is found on chromosome 17 and Type 2 on 7. 

Type 3 and 4 are both found on chromosome 9.

In some cases (types 5-7) it can be recessive. But these types are extremley rare. Genes have not been confirmed for these types, there is research going into it. However the theory is that it might have to do with chromosome 3.

Type 1- mildest form. People who have this have bone fractures during childhood often due to minor trama.   They appear normal and just have less then normal bone strength. After time they build up their strength and have fewer fractures as adults. 

Type 2- most severe. Have bones that appear bent or crumpled. Their chest is narrow and fractured ribs that lead to underdeveloped lungs. Infants that make it through birth have short, bowed arms and legs, and hips that turn outword. They also have unusually soft skull bones. They usually die from breathing failure. 

Type 3- realtively severe. Have very soft and fragile bones that may begin to fracture before birth, which may again cause problems with breathing. Bone abnormalties tend to get worse over time and often interfere with the ability to walk. 

Type 4- Can range from mild to severe. May not have broken bones until adulthood they have leg bones that are bowed (legs curve outward) at birth but, ususally lessens as they get older. 

Type 5- Similar to type 4 with the number of fractures. 

Type 6- Almost identical to type 4, but rare. 

Type 7- Short in height. Have symptoms similar to type 4.

Some treatment would include care for broken bones, pain medication, physical therapy, use of aids such as braces, and surgery.

One type of surgery is called rodding. Metal rods are put inside the long bones to strengthen them, fix bone malformations, and prevent bone malformations.

People with this disease are also encouraged to remain healthy, because it can help prevent breakage.

Proper care helps people with OI  to stay active, make bones more dense, and keep muscles strong.

Experts are trying to learn more about genes that cause OI, medications to help people with OI grow (growth hormone), drugs to make bones stronger (bisphosphonates and teriparatide), and better devices to use in surgery.

Bisphosphonates are drugs that prevent the loss of bone mass that is used to treat osteoporosis and similar diseases.

Teriparatides are used by injecting a hormone that cause the body to build more bone, making them denser. It is also used for people with osteoporosis, but the problem with this drug is it is designed for older people in mind and is linked to cancer.

There are support groups in over half the states.

Plus, with today's technology there are online support groups such as OI Foundation Forum, OI Parents, and OI Dads. These are all facebook pages where people can ask questions, share information, and provide support with one another.

Also the Official OI NING is as site that is a social networking site set up by the OI Foundation. It allows users to create their own profile pages, and participate in discussion threads with other users.

• A person with OI has a 50% chance of passing onto his or her children.
• Teeth brittleness is a possible symptom.
• It has been proben an Egyptian mummy had OI.
• Prince Ivan, according to legend, had OI and had to be carried into battle on a shield because his legs were too soft.
• In the U.S., 1 in 20,000 births have OI.

http://bones.emedtv.com/osteogenesis-imperfecta/cause-of-osteogenesis-imperfecta.html
http://www.oif.org/site/PageServer?pagename=AOI_Facts
http://www.childrensorthopaedics.com/osteogenesis_imperfecta.html
http://www.oif.org/site/PageServer?pagename=fastfacts
http://www.ncbi.nlm.nih.gov/pubmed/12110407
http://www.oif.org/site/PageServer?pagename=AOI_Types
http://www.niams.nih.gov/Health_Info/Bone/ Osteogenesis_Imperfecta/osteogenesis_imperfecta_ff.asp
http://www.news-medical.net/health/Bisphosphonates-What-are-Bisphosphonates.aspx
http://www.oif.org/site/PageServer?pagename=SN_FindGroup
http://www.nejm.org/doi/full/10.1056/NEJMicm062996
http://viotox.com/what-is-collagen/
http://www.asiaandro.com/archive/1008-682X/4/3.htm
http://www.beltina.org/health-dictionary/osteogenesis-imperfecta-types-treatment.html
http://www.physio-pedia.com/Osteogenesis_Imperfecta
https://www2.nau.edu/wordpress-mu/plaid/2012/03/health-promotions-presents-healthy-living-expo/
http://news.byu.edu/archive08-nov-dnasequencer.aspx
http://www.oif.org/site/PageServer?pagename=SN_FindGroup