5. Many connective tissue diseases result from synthesis of aberrant collagens.

Question

5. Many connective tissue diseases result from synthesis of aberrant collagens. Some of these collagens can be distinguished from native collagens by their different migratory patterns on a denaturing polyacrylamide gel (SDS-PAGE). Electrophoresis of collagen from a child who exhibits a possible collagen-deficiency disease produced a gel pattern indicative of a Type I collagen deficiency. When the separated chains were dialyzed (extracted) from the gel and recombined in an appropriate buffer, they failed to reassociate into a native triple helix. Do these data indicate that the molecular defect in the child involves the inability of collagen to form its triple helix once secreted into the extracellular matrix? Explain briefly.

Explanation / Answer

As per the data it appears to be collagen type 1 deficiency. This marks the lack of collagen type 1 mild form. It is an Autosomal dominant disease. Of moderate and severe forms are considered there occurs a deficiency in the formation of triple helix of collagen causing structural disturbance. This is also known as osteogenesis imperfecta. All this occurs due to mutation in gene COL1A1 and COL2A2.

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