Spinal Muscular Atrophy

Background
Spinal Muscular Atrophy (SMA): a genetic disease affecting the motor nerve
cells in the spinal cord, hindering the ability to walk, eat or breathe caused by
protein deficiency of the SMN protein (survival of motor neuron).
SMA affects people ranging from newborn to around age 30, each age being
type specific (types 1-4, lowest to highest level of function)
Symptoms: weakness of voluntary muscles (shoulders, hips, thighs, upper back),
loss of muscles used for breathing and swallowing, loss of back muscles
resulting in spinal curvatures, etc.

Molecular Basis of Disease

Chromosome 5a SMA is caused by a deficiency of a motor neuron protein called
SMN which is necessary for normal motor function
Deficiency is caused by genetic flaws or mutations on Chromosome 5a on a
gene called SMN1. This deficiency leads to the breakdown of SMN protein and
spinal nerves, resulting in the disease symptoms of weakness of voluntary
muscles, trouble breathing, etc., since the muscles are controlled and targeted
by the disease, as the protein is located among here

(Above is the protein structure of the motor neuron)

Normal vs. Diseased Protein Structure

Left: Tudor domain, the portion of the protein that is mutated, therefore the cause of
the disease.
Right: Dimer, the whole, original, unaffected protein (SMN1)
Diseased protein is broken down and ultimately nonexistent in the bodys spinal
cord
Normal protein is existent and determines the ability of the bodys muscle
function

Treatments & Proposal

Existing treatments include muscle relaxants, physical and occupational
therapy, insertion of feeding if needed, and assisted ventilation.
Although these treatments are existent, they are limited and do not provide
enough of a cure to diminish the symptoms and prognosis of SMA.
Our proposed treatment/cure is to isolate the muscles affected by SMA to trap
the sick motor nerve cells, therefore blocking their harmful signal given off, so
they cant affect the rest of the body and the muscles movement. After this is
performed, we would then inject a serum of SMN protein in the bodys system,
and follow this up with protein and gene therapy, to help with the victim's loss
of proteins throughout the disease.

(Above is an example of SMN1s plasmid map of rDNA.)

(Above is an example of the splicing process the protein goes through when affected
by the disease.)

(Above is the normal nerve and muscles cell compared to the affect nerve and muscle
cell)

Acknowledgments

We would like to thank our virtual mentor, Christine E. Beattie, for taking the time to
provide valuable feedback to help us grow both as scientists and as writers.

Bibliography

Spinal muscular atrophy.

Kashmiri. 20 October 2016.

https://en.m.wikipedia.org/wiki/Spinal_muscular_atrophy
About SMA.

. http://www.curesma.org/sma/about-sma/

Spinal Muscular Atrophy.

https://www.mda.org/disease/spinal-muscular-atrophy
Protein Data Base site: http://www.rcsb.org/pdb/home/home.do
Molecule Modeling site: workbench.sdsc.edu