25_Mar18_KS_motordisease

25_Mar18_KS_motordisease - Genetics of motor diseases 1. 2....

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1 Genetics of motor diseases 1. Multiple sclerosis (MS) 2. Amyotrophic lateral sclerosis (ALS) 3. Huntington’s disease 4. Parkinson’s disease 1 Multiple Sclerosis: many scars Population frequency: 1/1000 - 1/10,000 Age of onset: 20-40 yrs old Phenotype: loss of movements, muscle spasms, difficulty in coordination, wide variation Disease basis: Axon demyelination, axon degeneration 2
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2 MS is a progressive disease 85% relapsing/remitting initially 1-2 episodes/yr (2/3 become progressive after several years) 15% progressive 50% unable to perform household/employment responsibilities (10yrs) 50% unable to walk (25yrs) 3 MS is caused by demyelination of axons 4
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3 Which comes first? Primary oligo degeneration leads to myelin breakdown, leads to secondary inflammation??? Is this an immune disease or a neurodegenerative disease? Disorders in MS: 5 Inhibiting the immune system slows MS 6
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4 Current MS treatments attack the immune system 7 Amyotrophic lateral sclerosis (ALS) no muscle nourishment, spinal cord scarring Population frequency: 1/100,000 Age of onset: 50-70 Phenotype: weakness, muscle wasting, no cure, fatal 2-5 yrs can’t breathe Disease basis: 90% sporadic 10% familial 20% familial gene defect in superoxide dismutase 8
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5 9 Characteristics of ALS ALS is caused by a Gain-of-function SOD, not lof, dominant negative Misfolded protein??? Generates more free radicals?? Superoxide Dismutase is a free radical scavenger reduces oxidative stress converts O- to O2 or H2O2 cytoplasmic 10
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A mouse model for ALS: Can misexpress the human mutant in different cell-types Only in neurons, no disease Only in astrocytes, no disease 11 Which cells promote motor neuron degeneration in ALS? 12
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25_Mar18_KS_motordisease - Genetics of motor diseases 1. 2....

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