Abstract

Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disease that results in dysfunction and death of motor neurons throughout the body. The disease has an insidious onset and results in death due to atrophy of the motor neurons in the respiratory system causing asphyxiation. Previous research has firmly established that genetics play a critical role in determining the likelihood that an individual would develop the heritable familial ALS (fALS) and even sporadic ALS (sALS), which does not show typical heritability. While there is little known about how genes affect the pathology of ALS, multiple proteins have been correlated with the progression of ALS. Fused in Sarcoma (FUS) is a DNA/RNA binding protein that has recently been linked with ALS, and as such, its role in ALS has not been broadly investigated at the moment. Patients with the R495x mutation in FUS have been shown to have a much more aggressive pathogenesis than those that do not have that mutation in the FUS gene. Site directed mutagenesis and restriction digests were done to properly express the R495x FUS mutant in a mammalian vector. Systematic characterization of individual FUS mutations will contribute to the understanding of the unique onsets and pathogeneses and provide a much more in depth understanding of how the FUS protein contributes to ALS.

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