This paper looks at mutations in type I collagen that leads to osteogenesis imperfecta (OI).
Written in 2008; 1,119 words; 5 sources; APA; $ 38.95
Paper Summary:
The paper discusses osteogenesis imperfecta (OI), which is commonly known as "brittle bone" disease and is due to defects in type I collagen genes. The paper explains the molecular structure of collagen and its mutations and discusses the causes of this abnormality.
From the Paper:
"As the most abundant group of proteins found in vertebrates, collagen contains insoluble fibers with great tensile strength and is present in connective tissues such as bone, teeth, tendons, ligament, cartilage and the fibrous matrices of skin and blood vessels. Materially, it is a left- handed triple helix with three polypeptide chains or residues per turn. In mammals, there is a variety of collagen in different tissues within the same individual. The composition of collagen is largely glycine (Gly), proline (Pro) and 4-hydroxyproline (Hyp) with smaller quantities of 3-hydroxyproline and 5-hydroxylsyl (Hyl) (Smith, 1983)."
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