hhmi Biolnteractive Central Dogma and Genetic Medicine APPLY WHAT YOU HAVE LEARN
ID: 280982 • Letter: H
Question
hhmi Biolnteractive Central Dogma and Genetic Medicine APPLY WHAT YOU HAVE LEARNED 5. You are a researcher working on a treatment for Hutchinson-Gilford progeria syndrome, an extremely rare Click& Learn Student Worksheet 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.Explanation / Answer
Hutchinson Gilford progeria syndrome (HGPS) is characterised by premature ageing. It is transmitted in autosomal dominant fashion and is due to point mutations in LMNA gene coding for the intermediate fiber proteins- lamin A and lamin C. This mutation leads to production of truncated lamins known as progerin which are produced as a result of aberrant splicing.
Recently, several modalities of treatment strategies has been devised for treating HGPS. Some of them are mentioned below,
I would like to target aberrant mRNA splicing which leads to the production of protein. This can be done with the help of isoprenylation and methylation inhibitors like Lonafarnib. This will prevent the formation of progerin and therefore may prolong the lifespan of people with HGPS.
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