Example of Collagen Disease

Collagen molecule is a long, stiff, extracellular structure comprising of three polypeptides wound around one another in a rope like triple helix. The chains are held together by hydrogen bonds. 

Collagen is a fibrous protein. Variations in the amino acid sequence of the alpha chains result in collagen molecules with slightly different properties.

Collagen Diseases
  • Ehlers-Danlos syndrome is a heterogeneous group of generalized tissue disorders that results from inheritable defects in the metabolism of fibrillar collagen molecules. Symptoms can include stretchy skin, loose joints, and vascular problems.
  • Osteogenesis imperfecta, also known as brittle bone syndrome is also a heterogenous group of inherited disorders involving mutations in the collgen genes themselves that is distinguished by bones that easily bend and fracture. Retarded wounds healing, and a rotated and twisted spine, leading to a humped back appearance, are common features of the disease. 

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