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The neurodegenerative disease ALS can be caused by a hexameric repeat expansion (5’-GGGGCC-3’) in the first...

The neurodegenerative disease ALS can be caused by a hexameric repeat expansion (5’-GGGGCC-3’) in the first intron of a gene called C9orf72. While the normal allele has 2-23 copies of the hexameric repeats, dominant disease-causing mutations have hundreds to thousands of copies. Normally, mutations in introns do not have any phenotypic effects; however, this is a rare exception. Describe the mechanism by which the hexameric repeat expansion in the first intron of C9orf72 leads to ALS disease phenotypes.

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gladiator answered 1 year ago
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