Spinal Muscular Atrophy
SMA
Mutation Story:
Hello, I’m the SMN1 gene on chromosome 5, there’s a defect with my gene, and with this mutation I
create deficiencies in the motor neuron protein called SMN (Survival of Motor Neuron.) But with my friend the SMN2 gene, he chooses/modifies the severity of the mutation for spinal muscular atrophy. This defect with my gene means the necessary motor neuron functions aren’t able to work properly. I, the SMN1 gene, am not able to produce full-length and functional SMN proteins. And with my mutation I produce insufficient amounts of SMN protein with means that which means that the motor neurons located in the spinal cord and the brainstem die; and with the deaths that I have created the nerve impulses that the brain tries to pass on won’t be able to send the massages to the muscles. Which means that the muscles cannot accomplish their normal functions, so weakness and impaired movement is created. But sometimes my friend SMN2 is created with extra copies and it can help produce some SMN protein that I’m not able to.
As a SMN1 gene, I’m am extremely mutated that I cannot correctly produce/code the SMN protein, and this is due to a deletion at exon 7 or either at other mutation points. My mutation can be passed on ifboth parents carry the gene, there is a 25 percent chance of it being passed along and SMA affects 1 in6000 to 1 in 10000 people. SMA can be caused by mutations with my SMN1 gene, this disease is caused and inherited when my gene has been mutated or has a deletion, meaning something is missing that is needed. This disease is inherited even one parent has my mutation then they will be a SMA carrier but if both parents have the deficiency then the will get my gene with the disease.
I’m the gene that changes things, but what happens to Billy (a newborn)? My host. Well, first of all Billy was all healthy and then the symptoms came, which included, muscle weakness and difficulty with sitting, standing, walking, also he had lost a lot of strength in his respiratory muscles and lastly Billy showed that he had difficulty with swallowing, which is what Billy was having. Billy was affected by my gene defect because there is no pharmacological treatment, but Billy has had orthopedics, mobility support, respiratory care, nutritional care, cardiologic care, and mental health care. Billy’s weak spine muscles required physiotherapy and occupational therapy, because of the pressure the deformed spine I caused put on his lungs. Including the support needed to walk and the respiratory (breathing/respiratory organs) difficulty and after awhile his parents found that his tongue was twitching, which a sign that their toddler had SMA. And after awhile and all the testing which included, EMGs, CTs, MRIs, and muscle tissue biopsy. And after Billy was diagnosed with this disease and that they found that the SMN1 gene was missing/imperfect, and then his life changed forever.
Billys’ life was severely affected by my defect in his DNA because there is no cure, and with all the treatments he gets just so he can relieve some of what he has to deal with, he still has a huge difficulty with his life to this day. Billy and his parents have multiple doctors and they always hope for new research and a cure. As Billy grew older his condition grew stronger and he as grew weaker he was unable to do regular activities, but Billy was a very happy baby but after 18 months of a very happy and energetic baby. My gene mutation killed Billy and his story did not continue, but his parents still hope that a cure will be found so none has to go through the pain they went through.
Sources:
https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy#statistics
https://www.mda.org/disease/spinal-muscular-atrophy/causes-inheritance
https://en.wikipedia.org/wiki/Spinal_muscular_atrophy#Signs_and_symptoms
http://kidshealth.org/en/parents/sma.html
http://www.ninds.nih.gov/disorders/sma/detail_sma.htm
http://www.smasupportuk.org.uk/sma-type-1-information
The Making of the Mutation Story:
ASK
Some of the questions that I asked included:
How is the mutation caused?
What causes the mutation? And where?
How is the mutation passed along? And what happens with the mutation in the body?
Is there a cure for SMA? And what is the treatment?
How does the mutation affect someone?
What gene is defected for the mutation to take place? And how is it defected?
ACQUIRE
The digital tools I used included:
MDA.org
Wikipedia
Spinal Muscular Atrophy Support UK
U.S. National Library of Medicine
ANALYZE
For each question I found relevant information and sources by analyzing what I read and what was on the sites. For each site I looked at the advertisements to see if there were any and if they should be “trusted.” I also looked at the ending in for the cite, and most of them were .gov or .org which was a clear sign that means that I can and should use this site. At the end of analyzing the information from the reliable sites I made sure I used my own words and I cited/embedded each site, to make sure I gave credit and to show where I got the information. I verified the sites I used and the information I used with multiple sites to make sure everything was reliable.
ASSESS
Overall, the whole process went very smoothly and I was able to show my learning and comprehension in this subject. I am very happy with the end result but some things I could fix for next time is taking more time to read something through and really get an understanding of it. And another thing could be to use a couple more sites to expand and maybe listen to some educational videos with examples for better detail comprehension. But in the end I believe I did a pretty good job and that I personally, was able to understand this mutation a little bit better.