CHARGE stands for coloboma, heart defect, atresia choanae, retarded growth and development, genital abnormality, and ear abnormality. This condition can be very lethal. A defect in the CHD7 protein typically will lead to deformed greater vessel formation such as aorta development. It can cause the aorta as seen below to be completely cut into two pieces which makes it so it can't send blood to the rest of the body properly. In the study they found that about 21% of the subjects with the defective CHD7 protein had disrupted aortic arches.
The malfunctioning of this protein can also cause the heart to not contract properly. These malformations can be so bad that they can cause the baby to die. In a study by Payne et al they have finally been able to show that the protein I have been discussing causes structural malformations in the heart in patients with CHARGE. In the experiment over 90% of the test subjects had heart failure when the researchers ablated the CDH7 protein. Ablating this protein in the test subjects was the equivalent to the protein not working in actual pateints.
I believe that research like this is very important because we can help people with this kind of information. This information can help us because it lets us know what is causing the structural malformations, so now we can figure out how to fix it. Researchers can start to see if there are ways that they can synthesis this protein and give it to fetuses or even try to find a way through genetics to make it so that way this protein's production is expressed. I think anything we can do to help the survival rate of babies is important because it helps the species as a whole.
Read more about it here
works cited:
CHARGE syndrome. (n.d.). Retrieved October 8, 2015, from http://ghr.nlm.nih.gov/condition/charge-syndrome
http://staff.kfupm.edu.sa/MC/medasen/hb22_conaorticstenosis.jpg
Find the image here
Payne, S., Burney, M., Mccue, K., Popal, N., Davidson, S., Anderson, R., & Scambler, P. (n.d.). A critical role for the chromatin remodeller CHD7 in anterior mesoderm during cardiovascular development. Developmental Biology, 82-95.
Does the protein chromodomain-helicase-DNA-binding protein 7 (CHD7) affect gene expression at different levels in adults compared to children or developing fetuses? If CHD7 is working improperly, does in increase unwanted transcription or turn off necessary transcription of DNA and thus cause people to have CHARGE? Further research would be very beneficial for a variety of heart and cardiovascular disorders.
ReplyDeleteWhen you say that a defect in CHD7 could cause the aorta to completely split into two pieces, would it not be a tube anymore and the organism would immediately die because blood could not be properly circulated? Research done on the heart is essential to medical advances and the betterment of our society. My younger brother had Supraventricular Tachycardia (SVT) in which his heart had an extra electrical pathway that was wrapped around his SA node that caused his heart rate to increase to dangerously high levels. I wonder if a mutation in the CHD7 protein caused his condition. When he had heart surgery to correct it, the surgeons had to ablate the pathway so his heart would contract properly again. It is amazing how one mutation in a protein, such as chromodomain-helicase-DNA-binding protein 7 (CHD7), could have such an immense impact on gene expression. What animals were utilized in this study? It would be very interesting to compare the subjects’ anatomical heart structure to that of a human. Are there any treatments for or corrective surgeries available CHARGE? This topic is very interesting and I would like to learn more about it.
ReplyDeleteI wonder if there is there a test that can be done while the fetus is still in the mother's uterus to determine if the fetus' CHD7 gene is working improperly? If so that would be extremely helpful to the baby in determining the plan of action to potentially repair the malformed heart. This is another article that makes me truly understand how delicate every part of our development is. One tiny gene could become lethal if its not working properly. Like Katie asked, I'm wondering if there are corrective surgeries for CHARGE or if the deformed expression of CHD7 makes a heart transplant necessary?
ReplyDeleteI wonder if there is there a test that can be done while the fetus is still in the mother's uterus to determine if the fetus' CHD7 gene is working improperly? If so that would be extremely helpful to the baby in determining the plan of action to potentially repair the malformed heart. This is another article that makes me truly understand how delicate every part of our development is. One tiny gene could become lethal if its not working properly. Like Katie asked, I'm wondering if there are corrective surgeries for CHARGE or if the deformed expression of CHD7 makes a heart transplant necessary?
ReplyDeleteI was a bit confused as to how the aorta was split if this CHD7 protein was not working. Like Kathleen asked, is it totally split, and if so, how does blood flow at all? Regardless, this seems like a very pivotal gene in the development of the heart, especially as it can cause complete failure if it is repressed or not functional. I was wondering what these "test subjects" were. I'm guessing that they were some sort of animal that has a heart anatomically similar to the human heart, but "test subjects" made me have to stop and reassure myself that they were not human subjects. I would also be interested in knowing the effects that this gene has on other areas of development, as CHARGE is much broader than just the heart. Did it have similar catastrophic failures in other areas as well? I guess it would make sense if this is a transcription factor, but it was a bit unclear to me.
ReplyDeleteI have the same question as Daniel; what subjects were used to test this? The importance of the CHD7 in normal development of the heart is astonishing, and I have never heard of CHARGE until now. I wonder if there is some sort of gene therapy available such as inserting the correct gene needed to make the CHD7 protein. It seems as if this protein has an array of effects on other systems in the body, so if there was a way to restore this protein, I wonder if other developmental abnormalities could be improved.
ReplyDeleteShape is so important in function. It sounds like CHD7 protein plays an important morphological role. Since this protein is important in helping with gene expression enhancers,could there be a different protein that also enhances gene expression to be a replacement for CHD7? In other words, is there an alternative way to turn on these enhancers to help with the morphology of the vessels?
ReplyDeleteI think that you found a very interesting topic to look into and write about and the number of comments and inquiries above support that. Like most others have already said, I was not aware of the CHD7 protein or the CHARGE disorder but am astonished by their effects. As Daniel pointed out, CHARGE seems to influence a much broader area of the body than just the heart. I wonder if fixing or controlling the CHD7 protein in the heart would alleviate the related complications in the other parts of the body as well.
ReplyDeleteHello Steven,
ReplyDeleteImmediately when I read the title of your article it caught my attention and the summary that you did for this article was great! I never knew about CHARGE until reading your article. It amazes me how the malfunction in one thing such as CHD7 can cause so many negative things to happen in the body. This article does a good job with showing how one little small change in the body can be detrimental and how specific all genes and proteins are in their roles in the body.
While it is well known that proteins have diverse functions throughout any organism, it is still interesting to see one protein having many effects in the body, especially when they can be so detrimental when not functioning properly. Since this protein is involved in gene expression, it can have a function in several genes, meaning many proteins. This means if this protein cannot be replaced, a host of other gene regulators are probably not sufficient enough to cause a normal amount of mRNA to be produced, resulting in abnormal development of the affected areas.
ReplyDelete