Genetic mutation
People with Fibrodysplasia Ossificans Progressiva (FOP) are born with mutations
in the activin A receptor, type I (ACVR1) gene. Normally, this gene
provides the body with instructions on how to produce the activin receptor type
I protein, which is a member of a protein family called bone morphogenetic
protein (BMP) type I receptors. The ACVR1 protein is present in many body tissues,
including the skeletal muscles and cartilage. The protein helps regulate the
growth and development of muscles and bones. It also helps control the gradual
replacement of cartilage by bone that occurs when a person grows into an adult.
Random occurrence
Nearly all cases of FOP occur randomly and are not inherited. Instead, the
genetic mutation randomly occurs during the development of the egg, sperm or
embryo.
Inheritance
When FOP is
inherited, it is passed down as an autosomal dominant trait— i.e. one copy of
the mutated gene (from any of one parent) is enough for a child to develop the
disorder. However, FOP is rarely inherited because most people with the
disorder are unable to have children.
Source: wellness
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