TIMELINE DIAGRAM

Introducing Fibrodysplasia Ossificans Progressiva.

Genetic timeline of F.O.P

F.O.P

model organisms

disease info

Autosomal dominant Heterotrophic ossification .

+ The first mouse model expressing constitutively active ACVR1, through Cre-Lox-inducible overexpression ACVR1Q207D, was generated and studied prior to the discovery of ACVR1 as the causative gene for FOP

Chromosome 2 (2q24.1)

+ info

Life frequency includes one in two million births.

+unique progression of FOP from person to person allows some people to live well beyond 56 years of age. Some people with FOP live into their 60s and 70s.

+ info

Genetics II

life expectancy

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life and disease frequency

Rare, progressive genetic disorder that has an estimated prevalence of 0.88 per 1 million US residents, or approximately a prevalence of 1 in 1 million. *

More than one-quarter of U.S. adults report they have ever been diagnosed with two or more chronic conditions such as asthma, diabetes, heart disease, or hypertension during their lifetime compared to 22 percent or less in all other countries. This rate is twice as high as in the Netherlands and the U.K.

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Fibrodysplasia Ossifican Progressiva

Genetic disorder.Also known as Stone Mountain Syndrome. Muscles & connective tissue ossify to bone. TendonsI & Ligaments. Loss of movement .

Causes:Gene mutatation-ACVR1 protein: Bone Morphogenic protein (BMP) prolonged signaling of normal bone ossification.

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Normal function of mutated gene and effects.

FOP is caused by the mutation of a gene (ACVR1) in the bone morphogenetic protein (BMP) pathway, which is important during the formation of the skeleton in the embryo and the repair of the skeleton following birth. ACVR1 gene variants result in a receptor protein that is turned on by ligands more easily than the normal version of the protein. Too much receptor activity causes overgrowth of bone and cartilage, resulting in the signs and symptoms of fibrodysplasia ossificans progressiva.

• Recent analysis using RNA-sequencing showed that the ACVR1 gene is ubiquitously expressed in healthy human tissues, with varying expression levels .

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Disease info.

Typical age of diagnosis, symptoms, and treatments.

FOP is an extremely rare, autosomal dominant disease with a prevalence of 1/2,000,000. Ninety-five percent of patients manifest HO before the age of 15, and the latest report of the oldest patient with HO involves a patient who was 56 years of age (10,11). Treatments include courses of high dose corticosteroids at the start of the symptoms of the condition.

• symptoms include difficulty speaking
• Decreased mobility (scooting instead of crawling)
• Hearing impairment
• Malformed big toe

Model organisms

LACVR1 was identified as the gene responsible for FOP and the mutation c.617G>A, Mus Musculus. Mutations found in ACVR1 that are associated with FOP all cause abnormal constitutive activation of BMP signaling.

• mice develop progressive heterotopic ossification at anatomic locations mirroring those observed in FOP.
• This data is in agreement with observations made using Acvr1 tm1Emsh/+ mice [18]. Heterotopic bone lesions form at the base of the skull and paraspinally.