Quantifying mutant proteins

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Quantifying mutant proteins

• Diagnosing ALS

Lucy Brennan Dr. Joe Beckman
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ALS overview

• Neurodegenerative disease
• Motor neuron death
• Systematic muscular degeneration
• Familial and sporadic
• Superoxide dismutase

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Superoxide dismutase

• scavenging superoxide
• Effects of mutations
• Metal binding ability
• Gain of function

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Current ALS diagnosis

• Physical tests
• Reflexes
• Observation of progression
• Nerve impulse tests

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New diagnostic possibilities

• Cellular imaging
• Molecular tests
• Spinal cord
• muscle

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Project goals

• Quantifying SOD
• Concentration of protein per gram
• Gaining a baseline measurement
• Diagnostic comparisons
• Diagnostic possibilities
• Muscle specific characteristics

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Mass spectrometry

• Electrospray mass spectrometer
• Time-of-flight analyzer
• Same ratio, same velocity
• SDS gel

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Procedures
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Muscle samples
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Acknowledgements

• Howard Hughes Medical Institute
• Beckman Lab