Collagen Diseases

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)."

Sample of Sources Used:

• Morello, Roy and Brendan Lee (20 October 2006). CRTAP Is Required for Prolyl 3- Hydroxylation and Mutations Cause Recessive Osteogenesis Imperfecta. Cell. Vol. 127, Issue 2, 291-304. (http://www.sciencedirect.com/science/article/B6WSN-4M52B90-H/2/a217e5c
• Radmer, R.J. and T.E. Klein. (2004). Severity of Osteogenesis Imperfecta and Structure of a Collagen-like Peptide Modeling a Lethal Mutation Site. Biochemistry. 43, 18, 5314-5323, 10.1021/bi035676w.
• Smith, et al. (1983). The Brittle Bone Syndrome. London: Butterworths, 265-289.
• Voet, Donald, Judith G. Voet and Charlotte W. Pratt. (2006). Fundamentals of Biochemistry: Life at the Molecular Level. 2nd edition, 139-142.
• Yang, W., M.L. Battineni and B. Brodsky. (1997). Amino Acid Sequence Environment Modulates the Disruption by Osteogenesis Imperfecta Glycine Substitutions in Collagen-like Peptides. 36(23); 6930-6935. DOI: 10.1021/bi970051h.

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• Analytical Essay # 148247 : "Recognition and Prevention of Osteoporosis"
• Term Paper # 133474 : "Bones"
• Research Paper # 66757 : "Causes and Effects of Multiple Sclerosis"

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