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  • Diseases of Collagen Synthesis

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    Sam Jam
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    The document discusses diseases of collagen synthesis, specifically osteogenesis imperfecta or brittle bone disease. It is caused by mutations in collagen genes that result in defects in collagen type 1, the most common type of collagen found throughout the body in skin, tendons, ligaments, bones, cornea, and dentine. Mutations replace the glycine amino acid in the repeating tripeptide sequence affecting proper collagen structure.

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    collagen synthesis

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    The document discusses diseases of collagen synthesis, specifically osteogenesis imperfecta or brittle bone disease. It is caused by mutations in collagen genes that result in defects in collagen type 1, the most common type of collagen found throughout the body in skin, tendons, ligaments, bones, cornea, and dentine. Mutations replace the glycine amino acid in the repeating tripeptide sequence affecting proper collagen structure.

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    © All Rights Reserved
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    9 views1 page

    Diseases of Collagen Synthesis

    Uploaded by

    Sam Jam
    The document discusses diseases of collagen synthesis, specifically osteogenesis imperfecta or brittle bone disease. It is caused by mutations in collagen genes that result in defects in collagen type 1, the most common type of collagen found throughout the body in skin, tendons, ligaments, bones, cornea, and dentine. Mutations replace the glycine amino acid in the repeating tripeptide sequence affecting proper collagen structure.

    Copyright:

    © All Rights Reserved
    Download as RTF, PDF, TXT or read online from Scribd
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    of 1

    Diseases of collagen synthesis

    A. Mutation in collagen genes


    B. Defects in post translational modification
    Osteogenesis imperfecta ( Brittle Bone Disease)
    1. Collagen gene mutation-- Pro alpha chain( 1 &2)
    2. Replacement of glycine from repating tripeptide ( Gly-XY-Gly-X-Y-)
    3. Type 1 collagen

    Skin

    Tendon

    Ligaments

    Bones

    Cornea

    Dentine

    Most of the body collagen is Type I

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