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Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disease that causes muscle to turn into bone. FOP occurs in about one in two million people, but spontaneous bone development is relatively common in the broader population. The disease first manifests itself at birth, when a baby appears normal but has bent big toes. By early childhood, some of the body's connective tissues—including muscles, ligaments and tendons—have begun ossifying into skeletal bone, locking the joints and distorting posture and movement. The mutation occurs in the gene ACVR1, which produces a protein that is a receptor that spans the cell membrane.
| Characteristics | Values |
|---|---|
| Cause | Genetic mutation in the ACVR1 gene |
| Disease name | Fibrodysplasia ossificans progressiva (FOP) |
| Occurrence | One in two million people |
| Symptoms | Connective tissues, including muscles, ligaments and tendons, ossifying into bone |
| Treatment | N/A |
| Severity | Often severely disabling |
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What You'll Learn
Genetic mutation
A rare genetic disease called fibrodysplasia ossificans progressiva (FOP) causes soft tissue cells to transform into bone cells, creating a second skeleton. The disease first manifests itself at birth, when a baby appears normal but has bent big toes. By early childhood, some of the body's connective tissues—including muscles, ligaments and tendons—have begun ossifying into skeletal bone, locking the joints. The mutation occurs in the gene ACVR1, which produces a protein that is a receptor that spans the cell membrane. Cell receptors will receive a signal from outside, and when it binds, that information is transmitted through the receptor to other proteins within the cell, creating a chain of events to change how the gene works in the cell. The pathway that ACVR1 is on is part of the BMP (bone morphogenetic protein) pathway, which has been known for a long time to stimulate cells to differentiate into cartilage and bone. It seems that many instances of bone formation are not associated with any obvious trauma, and may be triggered by a relatively minor event like a stretched tendon or muscle.
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Fibrodysplasia ossificans progressiva (FOP)
FOP patients have a genetic fault, which means that their bodies cannot switch off the mechanism that grows the skeleton in the womb. Any small injury to connective tissue (muscles, ligaments, and tendons) can result in the formation of hard bone around the damaged site. The mutation occurs in the gene ACVR1, and this gene produces a protein that is a receptor that spans the cell membrane. Cell receptors will receive a signal from outside, and when it binds, that information is transmitted through the receptor to other proteins within the cell, creating a chain of events to change how the gene works in the cell. The pathway that ACVR1 is on is part of the BMP (bone morphogenetic protein) pathway, and that pathway has been known for a long time to stimulate cells to differentiate into cartilage and bone.
The disease first manifests itself at birth, when a baby appears normal but has bent big toes. By early childhood, some of the body's connective tissues have begun ossifying into skeletal bone, locking the joints and distorting posture and movement. Some bone formation appears to be spontaneous, while some can be brought on by trauma from surgery or even a mild impact. This disability progresses from upper to lower end, proximal to the distal end, and a dorsal to ventral side, i.e., from neck, spine, shoulders to elbow, knee, hip, jaw to wrists, and ankle. The wrists, ankles, elbows, knees, hips, and jaw gradually get involved until 40 years of age.
There is no definitive management for this life-threatening disorder to date, and various new drugs are being tested in clinical trials.
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BMP pathway
Fibrodysplasia ossificans progressiva (FOP) is an extremely rare genetic disease that causes muscle to be turned into bone. The condition was first reported in the 17th century by a French physician, Patin, who described a woman who "turned into wood". The wood he described was actually the formation of new bone. FOP is an autosomal dominant condition, but most cases are sporadic. Patients born with FOP often become severely disabled before adulthood. The disease first manifests itself at birth, when a baby appears normal but has bent big toes. By early childhood, however, some of the body's connective tissues—including muscles, ligaments and tendons—have begun ossifying into skeletal bone, locking the joints and distorting posture and movement.
The BMP pathway is involved in the process of muscle turning to bone. The BMP pathway is part of the ACVR1 gene, which produces a protein that is a receptor that spans the cell membrane. Cell receptors will receive a signal from outside, and when it binds, that information is transmitted through the receptor to other proteins within the cell, creating a chain of events to change how the gene works in the cell. The BMP pathway has been known for a long time to stimulate cells to differentiate into cartilage and bone.
The ACVR1 gene is mutated in patients with FOP, leading to the activation of the BMP pathway and the subsequent formation of bone in connective tissues. The bone formation response can be triggered by trauma from surgery or even a mild impact, such as a stretched tendon or muscle. However, in some cases, the bone formation appears to be spontaneous.
The BMP pathway is a critical player in the development of bone and cartilage, and its activation in FOP patients leads to the abnormal formation of bone in connective tissues. This results in the severe disability and distortion of posture and movement seen in patients with FOP. Understanding the BMP pathway and its role in FOP may provide insights into potential treatments or interventions for this rare and debilitating disease.
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Spontaneous bone formation
The mutation occurs in the gene ACVR1, and this gene produces a protein that is a receptor that spans the cell membrane. Cell receptors will receive a signal from outside, and when it binds, that information is transmitted through the receptor to other proteins within the cell, creating a chain of events to change how the gene works in the cell. The pathway that ACVR1 is on is part of the BMP (bone morphogenetic protein) pathway, and that pathway has been known for a long time to stimulate cells to differentiate into cartilage and bone.
In another case, spontaneous bone formation was observed in a large craniectomy defect in an older child.
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Trauma
Fibrodysplasia Ossificans Progressiva (FOP) is a rare genetic disease that causes muscle to turn into bone. The disease first manifests itself at birth, when a baby appears normal but has bent big toes. By early childhood, some of the body's connective tissues, including muscles, ligaments and tendons, have begun ossifying into skeletal bone, locking the joints and distorting posture and movement.
FOP is an autosomal dominant condition, but most cases are sporadic. FOP patients have a genetic fault, which means that their bodies cannot switch off the mechanism that grows the skeleton in the womb. Any small injury to connective tissue can result in the formation of hard bone around the damaged site. This can be brought on by trauma from surgery or even a mild impact, such as a stretched tendon or muscle.
The mutation occurs in the gene ACVR1, which produces a protein that is a receptor that spans the cell membrane. When the cell receptor receives a signal from outside, the information is transmitted through the receptor to other proteins within the cell, creating a chain of events to change how the gene works in the cell. The pathway that ACVR1 is on is part of the BMP (bone morphogenetic protein) pathway, which has been known for a long time to stimulate cells to differentiate into cartilage and bone.
FOP is one of the most rare genetic diseases known, occurring in about one in two million people. However, spontaneous bone development is relatively common in the broader population.
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Frequently asked questions
Fibrodysplasia ossificans progressiva (FOP).
FOP is one of the rarest genetic diseases known, occurring in about one in two million people.
FOP is caused by a mutation in the gene ACVR1, which produces a protein that is a receptor that spans the cell membrane.
FOP first manifests itself at birth, when a baby appears normal but has bent big toes. By early childhood, some of the body's connective tissues—including muscles, ligaments and tendons—have begun ossifying into skeletal bone, locking the joints and distorting posture and movement.
