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     Quick Answer


    The SMN1 gene produces full-length SMN protein, while SMN2 primarily produces truncated SMN protein. Risdiplam enhances SMN2 expression, compensating for SMN1 loss in SMA.


     Long Answer


    Overview of SMN Genes

    The SMN1 (Survival Motor Neuron 1) gene is crucial for producing the full-length SMN protein, which is essential for the survival of motor neurons. In contrast, the SMN2 gene, a nearly identical copy, typically produces only about 10% of functional SMN protein due to a splicing defect that leads to the exclusion of exon 7 in most transcripts. This difference is significant in the context of Spinal Muscular Atrophy (SMA), a genetic disorder characterized by the loss of motor neurons and muscle atrophy due to insufficient SMN protein levels.

    Key Differences Between SMN1 and SMN2

    • Gene Structure: SMN1 and SMN2 are located on chromosome 5, but they differ in their exon composition. SMN1 has a complete set of exons, while SMN2 often skips exon 7, leading to a truncated protein.
    • Protein Production: SMN1 produces 100% full-length SMN protein, while SMN2 produces only about 10% functional SMN protein due to the splicing defect.
    • Role in SMA: Mutations or deletions in the SMN1 gene are the primary cause of SMA. The presence of multiple copies of SMN2 can modify the severity of the disease, as higher SMN2 copy numbers correlate with milder symptoms.

    Impact of Risdiplam

    Risdiplam (Evrysdi) is an oral medication that acts as a splicing modifier, enhancing the inclusion of exon 7 in SMN2 transcripts. This results in increased production of functional SMN protein from the SMN2 gene, thereby compensating for the loss of SMN1 function in SMA patients. Risdiplam has been shown to significantly improve SMN protein levels and motor function in clinical trials, making it a vital therapeutic option for individuals with SMA.

    Conclusion

    In summary, the primary difference between the SMN1 and SMN2 genes lies in their ability to produce functional SMN protein, with SMN1 being the full-length source and SMN2 primarily producing truncated forms. Risdiplam enhances the expression of SMN2, providing a therapeutic avenue for SMA patients who lack sufficient SMN1 protein.

    References



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    Updated: December 23, 2024

     Key Insight


    The SMN1 gene is essential for producing functional SMN protein, while SMN2's role is to provide a backup, albeit less effective, source of this protein in SMA.

     Bioinformatics Wizard


    This code analyzes SMN gene expression data to compare the effects of Risdiplam on SMN1 and SMN2 levels.


    import pandas as pd
import matplotlib.pyplot as plt

def analyze_smn_expression(data):
    smn1_data = data[data['gene'] == 'SMN1']
    smn2_data = data[data['gene'] == 'SMN2']
    plt.figure(figsize=(10, 6))
    plt.bar(smn1_data['condition'], smn1_data['expression'], label='SMN1', alpha=0.7)
    plt.bar(smn2_data['condition'], smn2_data['expression'], label='SMN2', alpha=0.7)
    plt.xlabel('Condition')
    plt.ylabel('Expression Level')
    plt.title('Comparison of SMN1 and SMN2 Expression Levels')
    plt.legend()
    plt.show()

      

     Hypothesis Graveyard


    The hypothesis that SMN2 could fully compensate for SMN1 loss without treatment has been disproven by clinical evidence showing the necessity of therapies like Risdiplam.


    The assumption that all SMA patients would respond equally to Risdiplam treatment has been challenged by variability in individual responses.

     Biology Art


    My smnii gene is turned on with risdiplan, what’s the differencesbetween smnii and smn1 gene Biology Art

     Discussion


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