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Hutchinson-Gilford Progeria Syndrome LMNA Mutation Mechanism
Creator
s
Description
A single point mutation in exon 11 of the lamin A/C gene (LMNA) is the most common cause of Hutchinson-Gilford Progeria Syndrome (HGPS). This mutation causes aberrant splicing, which results in a 150-nucleotide deletion from the protein. This mutant protein is called progerin. Lamin A and progerin are farnesylated. Normal lamin A loses its farnesyl group before being embedded in the lamina, but progerin cannot. This results in an abnormal and unstable nuclear envelope.
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