Osteogenesis imperfecta: rehabilitation and prospects for gene therapy
Article Abstract:
Research is ongoing into several promising treatments for osteogenesis imperfecta (OI). OI is a genetic disorder caused by a mutation in type I collagen, which is the primary structural protein in bones and tendons. Children with OI have delayed growth, delayed motor skills and frequent bone fractures. Braces, surgery and physical therapy are used to strengthen muscles. Growth hormone may also be useful in promoting growth. Cell replacement therapy involves replacing defective collagen cells using a bone marrow transplant. Antisense RNA can also block the production of defective collagen.
Publication Name: JAMA, The Journal of the American Medical Association
Subject: Health
ISSN: 0098-7484
Year: 1997
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Tau and Parkinson disease
Article Abstract:
A mutation in the gene for the tau protein appears to be involved in Parkinson's disease. The tau protein is associated with microtubules, which are involved in cell division. Abnormal forms of the protein cause an accumulation of filaments in the brain.
Publication Name: JAMA, The Journal of the American Medical Association
Subject: Health
ISSN: 0098-7484
Year: 2001
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