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.
Answers
Explanation:
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.
Answer:
- Progeria sufferers might benefit from gene editing.
- The mutation might be eliminated using CRISPR, resulting in the gene being repaired and creating functional proteins rather than being expressed.
- By doing this, the gene would be fixed before transcription and RNA splicing.
- Children with progeria would be able to live longer thanks to the use of CRISPR to mend their cells.
Explanation:
CRISPR stands for Clustered Regularly Interspaced Short Palindromic Repeats
- Bacteria have been shown to have repetitive DNA sequences known as CRISPR, together with "spacer" DNA sequences that precisely match virus sequences in between the repeats.
- It was later found that, in response to viral infection, bacteria convert these DNA components to RNA.
- To cut the viral DNA and offer defense against the virus, the RNA directs a nuclease protein to its location.
- "Cas" stands for "CRISPR-associated," and it refers to the nucleases.
Genome editing:
- Researchers showed in 2012 that Cas nucleases, of which Cas9 was the first to be employed, could be guided to any DNA sequence using RNAs.
- The likelihood that the DNA will be cut at that location and nowhere else in the genome is increased by making the so-called guide RNA unique to only that one sequence.
- The technology performs admirably in all sorts of cells, including human cells, according to additional testing.
CRISPR role in treating progeria:
- The mutant progerin protein is the issue; progeria patients still have one healthy copy of the lamin A gene.
- The mutant gene can be silenced using the usual method of CRISPR gene editing, which includes slicing DNA with the Cas9 protein.
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