Wednesday, May 23, 2012

What causes changes in the DNA of a specific gene?



I got online to research DNA changes, and I found this from the Learn Genetics with the University of Utah. 

www.learngenetics.com 
The University of Utah.

Duane's NF Disorder is believed to be due to mutation, there are no others in our family history to have NF.
I hope this helps.


WHAT CAUSES DNA MUTATIONS?


Mutations in DNA sequences generally occur through one of two processes:
  1. DNA damage from environmental agents such as ultraviolet light (sunshine), nuclear radiation or certain chemicals
  2. Mistakes that occur when a cell copies its DNA in preparation for cell division.
1. DNA damage from environmental agents
normal DNA structure
Modifying nucleotide bases
Ultraviolet light, nuclear radiation, and certain chemicals can damage DNA by altering nucleotide bases so that they
 look like other nucleotide bases.
environmental DNA damage
When the DNA strands are separated and copied, the altered base will pair with an incorrect base and cause a mutation
In the example below a "modified" G now pairs with T, instead of forming a normal pair with C.
incorporating DNA mistakes
Breaking the phosphate backbone
Environmental agents such as nuclear radiation can damage DNA by breaking the bonds between oxygens (O) and 
phosphate groups (P).
breaking the phosphate backbone
Breaking the phosphate backbone of DNA within a gene creates a mutated form of the gene. It is possible that the 
mutated gene will produce a protein that functions differently.
Cells with broken DNA will attempt to fix the broken ends by joining these free ends to other pieces of DNA within the cell. 
This creates a type of mutation called "translocation." If a translocation breakpoint occurs within or near a gene, that gene's
 function may be affected.
2. Mistakes created during DNA duplication
Prior to cell division, each cell must duplicate its entire DNA sequence. This process is called DNA replication.
DNA replication begins when a protein called DNA helicase separates the DNA molecule into two strands.
helicase separates DNA strands
Next, a protein called DNA polymerase copies each strand of DNA to create two double-stranded DNA molecules.
polymerase copies DNA strands
Mutations result when the DNA polymerase makes a mistake, which happens about once every 100,000,000 bases.
Actually, the number of mistakes that remain incorporated into the DNA is even lower than this because cells contain 
special DNA repair proteins that fix many of the mistakes in the DNA that are caused by mutagens. The repair proteins
 see which nucleotides are paired incorrectly, and then change the wrong base to the right one.
Source;
Learn Genetics,  The University of Utah.
Duane was taken to the emergency two weeks ago, with sever chest pains. He had been under a lot of stress, thinking maybe acid reflux. When he arrived all the usual tests were done. EKG, blood work. They applied two Nitro patches and had given him 2 nitro pills at seperate times due to the pain.

Duane described the pain as if some one was sitting on his chest and unable to breath. He had sever pain to were he couldn't speak it was so hard and heavy, taking shallow breaths while trying to talk to me.

Has anyone had this happen to them? Or had these symptoms?

Duane was released that after noon, 18 hours later after arrival in emergency. He was uncomfortable for several days after that. He does have a stress test scheduled at the end of this month. This is the second time this has happened to him. The last one was about 1 1/2 years ago, and Morphine was perscribed.

The final outcome from the Doctor, was acid reflux.

Please let me know if you have had this sort of thing before.


Sunday, May 20, 2012

Spring is here.

In our neck of the woods, spring has finally arrived. Flowers are growing, Rhubarb is ready to pluck and new born livestock are an abundance near our home. New life of any kind is a wonderful sight.

I want to touch again on the fact that we all need to raise awareness about NF Disorder and funding as well. We need to talk to everyone including our families and friends so they are aware and they can help us.

As with newborn livestock, flowers, vegies, and humans, we need to be knowledgable for our Friends and Families who have NF Disorder in their lives. There is information out there for us all, and donations are accepted at, www.CTF.org and www.NFnetwork.org.

Please, we could use your support.


Sunday, May 13, 2012

Happy Mothers Day.

HAPPY MOTHERS DAY TO ALL , ENJOY YOUR CHILDREN AND PARENTS, EMBRACE THEM TODAY AND EVERYDAY AFTER.

Friday, May 11, 2012

May is "National Neurofibromatosis Disorder" Month!

I want to thank those of you who have supported and brought awareness of NF to your families and friends and their families and friends. Pleases keep telling people.

I received a phone call this morning from a person who was having a cup of tea. She received one of the mailings I sent out  raising awareness and funds for "Ending The NF Puzzle" for "The Children's Tumor Foundation". Not only did I have a "Virtual Tea Party", I had a "PONY EXPRESS" Tea Party as well, I  enclosed a Tea Bag.

Thank you to all who have supported "Fighting For The NF Cause".

If you would like to donate online, please go to:

www.ctf.org/icalrepeat.detail/2012/05/06/903/wyoming-tea-for-nf.html










Thursday, May 10, 2012

University of Washington, Washington State

I watched a video on Team Inspire, (for those of you who are unfimilar with this discussion group for people and family of people with NF). It was a very well done video showing the faces of a few people with NF. Please watch; http://www.youtube.com/watch?v=IU0neb6YPhE&feature=share

At the end of the video it mentions the University of Washington and the extensive NF research and clinic  headed by Dr. Gutman, Neurologist.

 Please check into it for those of you who live near or in Washington State. If you would like to join the NF Discussion Group, please go to this website and sign up;
www.nfnetwork.org/

Sunday, May 6, 2012

National Neurofibromatosis Disorder Day

Today is the National Neurofibromatosis Disorder Day and I am asking those that can to please help us in "Ending The NF Puzzle", to please help us with funds for research to end this disorder. Please tell your family and friends to tell their family and friends about Neurofibromatosis Disorder.
Many of you know that I am a mother of a Son and Grandson who has NF, so I am fighting so very hard for this, advocacy, research, awareness and funding for them and you. It hits us all close to home.
Fight for our friends and family who have Neurofibromatosis Disorder!

Please donate to; www.ctf.org/icalrepeat.detail/2012/05/06/903/wyoming-tea-for-nf.html.


Help us "FIGHT FOR THE NF CAUSE".


Thank you so very much.