A parent with a balanced translocation is healthy, but he or she may be at risk for passing unbalanced chromosomes in a pregnancy.
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- Fibrodysplasia ossificans progressiva - Wikipedia.
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A balanced translocation in which one chromosome joins the end of another. The presence of two or more chromosome patterns in the cells of a person, resulting in two or more cell lines for example, some with 46 chromosomes, others with These are also known as Mendelian inheritance disorders, from the first genetic work of Gregor Mendel. In these disorders, a single gene is responsible for a defect or abnormality. Single gene disorders usually have greater risks of inheritance. Single gene disorders can be:.
An abnormality occurs when only one of the genes from one parent is abnormal. If the parent has the disorder, the baby has a 50 percent chance of inheriting it. Examples include the following:. An abnormality only occurs when both parents have abnormal genes.
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If both parents are carriers, a baby has a 25 percent chance of having the disorder. A disorder of the glands causing excess mucus in the lungs and problems with pancreas function and food absorption. An inherited autosomal recessive condition that causes a progressive degeneration of the central nervous system, which is fatal usually by age 5. The disorder is determined by genes on the X chromosome.
Males are mainly affected and have the disorder. Daughters of men with the disorder are carriers of the trait and have a one in two chance of passing it to their children.
Sons of women who are carriers each have a one in two chance of having the disorder. A bleeding disorder caused by low levels, or absence of, a blood protein that is essential for clotting. Some birth defects do not follow a single gene or chromosomal abnormality pattern. They have cases that are more severe or less severe. How is the bone formation response triggered?
The mutation occurs in the gene ACVR1 , and this gene produces a protein that is a receptor that spans the cell membrane—so part of the receptor is outside of the cell, and part is on the inside. 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.
So is the bone formation just spontaneous? It seems to be spontaneous in that many instances of the bone formation are not associated with any obvious trauma.
Fibrodysplasia ossificans progressiva
Or maybe it's a relatively minor event like a stretched tendon or muscle. It could be something that in most other people wouldn't elicit any other obvious response—these patients could be more sensitive to something like that. How does trauma spur bone development? That's an area that we're very interested in. We don't know how it occurs, [but] we suspect that trauma induces a normal tissue repair response. The tissue either perceives the signal incorrectly or overstimulates [the response].
We know that even though this occurs at very low levels, the signaling triggers an event of bone formation. Are there currently any treatments or therapies for those with the disease? The treatments that seem to be effective in most patients with FOP are antinflammatory drugs. We think they're repressing some of the early events that are associated [with the bone formation].
It's not an ideal treatment because it doesn't work in all cases. Clearly better treatments are needed. Are there other diseases or conditions that studying FOP might help us better understand or treat? I think so because it's a disease that affects cartilage and bone cell differentiation.
How Can a Genetic Mutation Cause Muscle to Turn into Bone? - Scientific American
There are different conditions—osteoporosis is a clear example—where bone formation is no longer happening properly, so there is a possibility this could be applied to understand how to encourage cells to produce bone. We have also been talking with a number of people who are involved in tissue engineering to see: Can stimulating this pathway help heal broken bone?
- Muscle and Bone - Genes and Disease - NCBI Bookshelf.
- Fibrodysplasia ossificans progressiva - Genes and Disease - NCBI Bookshelf.
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There are more common instances of bone formation called heterotopic ossification. Extraskeletal bone is a relatively common occurrence following hip replacement surgery, head trauma or spinal cord trauma. It's been a very big issue in soldiers who have had certain types of war-related injuries. In many cases, heterotopic ossification has formed at amputation sites making it difficult to fit prostheses.
It actually does affect a lot of people. Presumably the process is the same and has the same cellular process. Your most recent research made use of zebrafish embryos to examine the molecular processes.
Genes and Disease [Internet].
What are the next steps in studying FOP? The mouse model is going to be very important to understand the disease. We have been using cell culture models and zebrafish as an assay to determine the effects of BMP on signaling, but we also want to be able to understand what the effect of the mutation is in the tissue and organ systems. We need to be able to study this in vivo.
We will continue to use the zebrafish to develop transgenic models. With mice, we can do a lot of studies to understand what will initiate heterotopic ossification.