According to recent research carried out at the University of Pennsylvania, USA, a mutant gene causes Fibrodysplasia Ossificans Progressiva (FOP), a rare incurable disorder which gradually turns muscles, ligaments and tendons into bone. A patient with FOP eventually becomes enveloped in a second skeleton and cannot move. The disorder usually begins in childhood.
About one in two million people suffer from FOP.
According to Frederick Kaplan, lead researcher "The discovery of the FOP gene is relevant to every condition that affects the formation of bone and every condition that affects the formation of the skeleton."
The gene in question is called ACVR1.
The researchers hope this new breakthrough may be the first step towards the development of an effective medication for FOP sufferers. It could also lead to better treatment for other bone related conditions and injuries.
You can read about this study in the journal Nature Genetics.
What is Fibrodysplasia Ossificans Progressiva?
Fibrodysplasia Ossificans Progressiva is also known as Myositis Ossificans Progressiva. It is a rare genetic disorder.
Muscles, tendons, ligaments and other connective tissue gradually turn into bone. As bone forms across joints it progressively restricts movement. Eventually the patient has an extra skeleton that immobilizes all the joints.
Symptoms
A newborn infant will appear normal, except for those with congenital malformations of the big toe. During their first ten or twenty years of life, patients develop painful fibrous nodules over the neck, back and shoulders. These nodules gradually turn into bone. The process of turning into bone is called heterotopic ossification.
The trunk and limbs are then affected. The body's muscles begin to be replaced with normal appearing bone. If surgeons try to remove the bone, it is replaced by even more than there was before. The upper regions of the body tend to be affected before the lower regions.
About one in two million people suffer from FOP.
According to Frederick Kaplan, lead researcher "The discovery of the FOP gene is relevant to every condition that affects the formation of bone and every condition that affects the formation of the skeleton."
The gene in question is called ACVR1.
The researchers hope this new breakthrough may be the first step towards the development of an effective medication for FOP sufferers. It could also lead to better treatment for other bone related conditions and injuries.
You can read about this study in the journal Nature Genetics.
What is Fibrodysplasia Ossificans Progressiva?
Fibrodysplasia Ossificans Progressiva is also known as Myositis Ossificans Progressiva. It is a rare genetic disorder.
Muscles, tendons, ligaments and other connective tissue gradually turn into bone. As bone forms across joints it progressively restricts movement. Eventually the patient has an extra skeleton that immobilizes all the joints.
Symptoms
A newborn infant will appear normal, except for those with congenital malformations of the big toe. During their first ten or twenty years of life, patients develop painful fibrous nodules over the neck, back and shoulders. These nodules gradually turn into bone. The process of turning into bone is called heterotopic ossification.
The trunk and limbs are then affected. The body's muscles begin to be replaced with normal appearing bone. If surgeons try to remove the bone, it is replaced by even more than there was before. The upper regions of the body tend to be affected before the lower regions.
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