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L06-Friedreich's ataxia

L06-Friedreich's ataxia - Huntingtons:cellularmechanisms...

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Huntington’s: cellular  mechanisms
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Huntington’s: anatomical/neurological  basis for chorea movements
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Neurodegenerative disorders caused by  trinucleotide repeat expansion- Friedreich’s Ataxia First described by Nikolaus Friedreich - 1863 Affects 1 in 50,000 Autosomal recessive, chromosome 9 Caused by a GAA trinucleotide repeat in the  first intron of the frataxin gene Onset of disease first seen at 5-15 years of  age Muscle weakness, loss of coordination,  cardiomyopathy, hearing and vision loss,  scoliosis Death at 40-50 years of age
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Friedreich’s Ataxia Most patients have two expanded alleles 200-1700 GAA repeats  34-100 repeats are asymptomatic (c.f. HD) Frataxin proteins have mitochondrial  translocation sequence Localized to inner membrane of the  mitochondria
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Altered expression of Frataxin in FA  cells
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GAA repeats and transcriptional  inhibition-Model 1
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