What genes are related to X-linked lissencephaly? X-linked lissencephaly is caused by a mutation in either the DCX gene or the ARX gene. Mutations in the DCX gene cause isolated lissencephaly, which typically does not involve any other parts of the body. Mutations in the ARX gene can cause X-linked lissencephaly with ambiguous genitalia and other associated health issues. Both genes provide instructions for producing proteins that play a role in the development of the brain. The DCX protein, doublecortin, plays a role in the migration of nerve cells (neurons) to their proper location in the developing brain. The ARX protein is involved in the regulation of other genes that contribute to brain development. The ARX protein is also found in the pancreas and testes.
Dave, I have not written anything yet. I am learning first. I have almost nothing to say at this point. To read this start with the oldest posts first. These are at the bottom right. I am hoping that you can look at the posts in order and follow the links and read some and then go back and continue with the next post. When I post like this is makes it very easy to see where I have been and allows me to go back to an article easily. Lissencepaly (L) is of interest because it a genetic disease that comes about because of only one defective gene. Most mental illnesses are much more complex genetically evolving many genes. I feel safe in doing my paper on L because the teacher introduced us to this disorder. Because my other class is genetics I am doubly interested in this disorder. The symptoms of L are a disruption of normal brain development that allows the neurons to migrate to their proper position in the cortex. In L the normal folds of the cortex do not occur. The brain is smooth. I am very curious about how the brain develops. I want to know how the neurons are guided to the proper locations. Conventional thinking is that diseases can show us “something” about the critical steps in normal development. I am interested, and focus, on the so called classical cases of L where the rest of the body is normal and only the brain is affected. In other more complex cases of L the genitals are ambiguous. I classical L is “caused” by only one defective gene. Interesting that it is on the X chromosome because I am very interested in X chromosome inheritance. X-linked diseased have a special set of inheritance rules. They have isolated the gene for classical L and it is called DCX. They know exactly where it is on the X chromosome. The even know what the DCX gene produces: a protein called doublecortin. They know that it has to do with how the neurons migrate in the proper direction. The role of neuronal migration is a subject of intense current research.
What genes are related to X-linked lissencephaly?
ReplyDeleteX-linked lissencephaly is caused by a mutation in either the DCX gene or the ARX gene. Mutations in the DCX gene cause isolated lissencephaly, which typically does not involve any other parts of the body. Mutations in the ARX gene can cause X-linked lissencephaly with ambiguous genitalia and other associated health issues. Both genes provide instructions for producing proteins that play a role in the development of the brain. The DCX protein, doublecortin, plays a role in the migration of nerve cells (neurons) to their proper location in the developing brain. The ARX protein is involved in the regulation of other genes that contribute to brain development. The ARX protein is also found in the pancreas and testes.
Dave,
ReplyDeleteI have not written anything yet. I am learning first. I have almost nothing to say at this point. To read this start with the oldest posts first. These are at the bottom right. I am hoping that you can look at the posts in order and follow the links and read some and then go back and continue with the next post. When I post like this is makes it very easy to see where I have been and allows me to go back to an article easily.
Lissencepaly (L) is of interest because it a genetic disease that comes about because of only one defective gene. Most mental illnesses are much more complex genetically evolving many genes.
I feel safe in doing my paper on L because the teacher introduced us to this disorder. Because my other class is genetics I am doubly interested in this disorder. The symptoms of L are a disruption of normal brain development that allows the neurons to migrate to their proper position in the cortex. In L the normal folds of the cortex do not occur. The brain is smooth.
I am very curious about how the brain develops. I want to know how the neurons are guided to the proper locations. Conventional thinking is that diseases can show us “something” about the critical steps in normal development. I am interested, and focus, on the so called classical cases of L where the rest of the body is normal and only the brain is affected. In other more complex cases of L the genitals are ambiguous.
I classical L is “caused” by only one defective gene. Interesting that it is on the X chromosome because I am very interested in X chromosome inheritance. X-linked diseased have a special set of inheritance rules. They have isolated the gene for classical L and it is called DCX. They know exactly where it is on the X chromosome. The even know what the DCX gene produces: a protein called doublecortin. They know that it has to do with how the neurons migrate in the proper direction. The role of neuronal migration is a subject of intense current research.