People who have spinal muscular atrophy (SMA) as a result of SMN1 deletions have much less...
People who have spinal muscular atrophy (SMA) as a result of SMN1 deletions have much less severe disease if they also have extra copies of SMN2. Why does this make sense?
Homework Answers
Spinal muscular atrophys is an autosomal recessive that have mutations in copies of SMN1 gene in each cell. This neurodegenerative disorder, SMA is caused by the mutations in the SMN1 gene found on chromosome 5 and are associated with the degeneration of motor neurons in the spinal cord.
People with spinal muscular atrophy, having multiple copies of the SMN2 gene is usually associated with less severe features, becuase SMN protein produced by the SMN2 genes can help make up for the protein deficiency caused by SMN1 gene mutations.
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