Biol168_10F_Lecture 19_5Nov2010

Biol168_10F_Lecture 19_5Nov2010 - Dr. Morris Maduro, UC...

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Dr. Morris Maduro, UC Riverside BIOL 168 (10F) – Lecture 19, page 1 Lecture 19: Development and Human Disease case study Textbook: There are no textbook references for this lecture. Fibrodysplasia Ossificans Progressiva (FOP) FOP is a human genetic disorder caused by a missense mutation in a BMP Type I receptor, AVCR1. Humans that carry one normal gene and one FOP allele have the FOP disorder. Beginning in childhood, FOP patients exhibit formation of extra bone, induced either by injury or without warning. Over time, joints become immobilized by new, secondary bone that joins other bones together. The phenotype does vary, probably due to genetic background, but almost all FOP individuals have the same mutation in ACVR1 (R206H). The mutation results in the inappropriate activation of an embryonic pathway of bone development, causing new connective tissue to become ossified (turn into bone). The bone that is made resembles the bone found in the normotopic skeleton, and cannot be removed by surgery (as it can grow back). FOP
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Biol168_10F_Lecture 19_5Nov2010 - Dr. Morris Maduro, UC...

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