What is SMN1 and SMN2?
All individuals with spinal muscular atrophy have at least one “backup gene,” known as SMN2. The SMN2 gene has a similar structure to SMN1, but only a small amount (10%) of the SMN protein it produces is fully functional.
What does negative for SMN1 deletion mean?
A negative test result is characterized by the presence of detectable amounts of SMN1 exon 7, with an SMN1 exon 7 copy number of >1, with the presence of subtle intragenic point mutations within the SMN1 gene having been ruled out.
What is the mechanism of action of Nusinersen?
The main pharmacological action mechanism of the 2ʹ-O-methoxyethyl phosphorothioate-modified drug nusinersen consists of an alteration of the SMN2 pre-RMA splicing process by inhibiting splicing factors. This facilitates the integration of exon 7 into the mRNA and thereby enhances full-length SMA protein levels.
What is the role of SMN1?
Normal Function The SMN1 gene provides instructions for making the survival motor neuron (SMN) protein. The SMN protein is found throughout the body, with highest levels in the spinal cord.
Is preconception genetic testing covered by insurance?
Is Genetic Testing During Pregnancy Covered by Insurance? Most insurance companies cover prenatal genetic testing, especially if the pregnancy is considered to be at a high risk for a genetic or chromosome condition.
What is SMN1 gene DOS deletion Alys?
SMN1/SMN2 Deletion/Duplication (MLPA) is a molecular test used to identify copy number variants in the gene associated with Spinal Muscular Atrophy.
What does it mean if you have 2 copies of SMN2?
Affected individuals with one or two functional copies of the SMN2 gene generally have severe muscle weakness that begins at birth or in infancy. Affected individuals with four or more copies of the SMN2 gene typically have mild muscle weakness that may not become noticeable until adulthood.