You are a researcher working on a treatment for Hutchinson-Gilford progeria syndrome, an extremely rare genetic disorder that causes acceler


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

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Kennedy 3 months 2022-02-17T21:05:44+00:00 2 Answers 0 views 0

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    HutchinsonGilford progeria is one of the rarest genetic disorders, which is caused due to mutation in the nucleotide sequence of the DNA. It causes rapid aging of the children and severe hair loss.

    In the current era, there is no proper cure for the disease progeria. However, routine observation has shown the cardiovascular problems associated with the disease.

    The treatment relies primarily on the situation, symptoms, and clinical manifestation of the disease.

    The initial findings of the clinical drugs, such as farnesyltransferase inhibitor were used to cure the disease.

    The pathway in gene expression to be targeted as:

    Progeria is a genetic disorder that is caused by the mutation in the single gene lamin A. The mutation in the gene disrupts the formation of protein, interferes with transcription and RNA splicing.

    The mechanism of action of a farnesyltransferase inhibitor (FTI) is that it inhibits the binding of adhesion of the farnesyl group with progerin.

    Genetic medicine acts to regulate the gene that causes stimulation of the progerin protein. The blood vessels can be healed with the proper treatment, showing positive results. The slowing down of cardiovascular problems such as attacks and stroke will enhance the chances of treatment.

    To know more about Hutchinson-Gilford progeria, refer to the following link:



    If predominantly, we can’t say of any treatment for progeria, aside from the routine observation of heart and blood vessel (cardiovascular) disease which is important in taking care of the health situation in the affected kids. Treatment relies majorly on the situation and clinical manifestations of the kid. At first, in 1999, the findings of the initial clinical drug trial for kids with an unusual rapid-aging disease, often referred to as Progeria, revealed positive results with a farnesyltransferase inhibitor (FTI), a drug initially designed to treat cancer.

    The PATHWAY in gene expression to be TARGETED is progenin formulation—

    The Progeria-forming mutation results in the formation of the protein progerin that disrupts the cell activities. Some areas of progerin’s toxic impact on the body is due to the formation of a farnesyl group, Â that adheres to the progerin protein aiding it’s disruption of the body’s cells. FTIs means of action is through inhibition of the adhesion of the farnesyl group to progerin, decreasing the hazardous substances that leads to progerin.

    The genetic medicine technique that acts intervention tool gene therapy to regulate the gene that causes the stimulation and formation of the protein progenin.

    Escalated cardiovascular disease results in death in the case of Progeria.

    It’s worthwhile to note that if the basic blood vessels can with time get better as a result of treatment, the treatment shows positive results. Slowing down stroke and aging manifestations will boost the chances of treatment.

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