Question

You are a researcher working on a treatment for Hutchinson-Gilford progeria syndrome, an extremely rare genetic disorder that causes accelerated aging in children. Children with progeria generally appear healthy at birth but soon start growing more slowly than other children and lose their hair. Additional symptoms include stiffness of joints, heart problems, and stroke. These children typically die of heart disease at an average age of 13 years. Progeria is caused by a mutation in a single gene, called lamin A. Scientists have identified over 1,400 mutations in the lamin A gene that result in changes in transcription, RNA splicing, and/or protein production. Lamin A codes for a protein required for the structural support of the nuclear envelope in cells. Without a functional protein, the nuclear envelope becomes unstable, eventually damaging the nucleus and causing cells to die. Based on what you learned in this Click & Learn, propose a genetic medicine strategy you could develop to treat patients with progeria. Describe which step in gene expression you might target and why you would target that step, the intervention tool you would use, and explain how this strategy would treat the disease.

Answer 1

Answer:

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