CDKL5 and US – Youtube Video 2010
CDKL5 what is that? Sounds like a character from Star Trek. What is CDKL5?
CDKL5 is a monster who robbed our child her voice. Her body’s ability to do the things it longs to do. It robbed her sister a sister who could play Barbie’s with and a brother a sister to throw a ball with.
It robbed a mom a daughter to have tea parties with and a father a daughter to dance with.
It took over our daughter’s brain and gave her seizures. It made seeing harder than it should be. It makes everything harder than it should be.
It came into our world unwanted. It took away the daughter we planned.
It took the daughter we prepared for.
It ate up our family and spat us out.
But then we got up. We took control. CDKL5 may have taken from us something we could never get back. But it couldn’t have our happiness. Our family! So we fought back.
Our family plays together even though the wheelchair comes along. Our family goes on vacation even though the seizures follow us. Our family is a tight unit and whatever aliment CDKL5 has thrown at our daughter it always follows, but it doesn’t stop us.
Even though we have to share our life with this thief, it can’t have our life. And we aren’t going to stop until we silence the thief. We will find the cure. It’s not over until the thief is locked up and put to rest forever.
(that is my opinion of CDKL5)
This is the actual information on CDKL5 copied from CDKL5.com
What is CDKL5?
CDKL5 is a gene that is found on one of our sex chromosomes called the X chromosome. The letters are an abbreviation of the scientific name of the gene which describes what it does. The long-winded name is cyclin-dependent kinase-like 5. The CDKL5 gene was previously called STK9 and sometimes people think that the two genes might be different but they are in fact the same.
What is the normal function of the CDKL5 gene?
The CDKL5 gene provides instructions for making a protein that is essential for normal brain development. Although little is known about the protein’s function, it may play a role in regulating the activity of other genes. The CDKL5 protein acts as a kinase, which is an enzyme that changes the activity of other proteins by adding a cluster of oxygen and phosphate atoms (a phosphate group) at specific positions. Researchers have not determined which proteins are targeted by the CDKL5 protein.
How are changes in the CDKL5 gene related to health conditions?
Mutations in the CDKL5 gene are have been found in girls with Atypical Rett Syndrome and boys and girls with X-linked infantile spasm syndrome (ISSX), West Syndrome, early onset seizures and Lennox Gastaut Syndrome.
To date one girl with a milder form having moderate intellectual delay and autistic features with no seizures or physical disabilities has been diagnosed. Another with late onset, well controlled seizures has recently been diagnosed.
With the limited information on identified individuals with CDKL5 mutations, it seems that is is not degenerative. However, there is still much to learn about the effect of CDKL5 on brain development, structure and function. As more research is undertaken we hope that a more definitive answer to this question is possible.
Some CDKL5 mutations change a single protein building block (amino acid) in a region of the CDKL5 protein that is critical for its kinase function. Other mutations lead to the production of an abnormally short, nonfunctional version of the protein. Researchers are working to determine how these changes result in seizures and the characteristic features of Rett syndrome [RTT] in affected children The involvement of CDKL5 in RTT seems to be explained by the fact that it works upstream of MeCP2, the main cause of RTT.
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