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Sunday, March 17, 2013

Hutchinson- Gilford Progeria


Dealing with Big Idea 4, which states biological systems interact, and these systems and their interactions possess complex properties, consider pages 183-185 in chapter 8 of Survival of the Sickest.  

The Hutchinson- Gilford progeria, along with Werner syndrome, are diseases that cause accelerated aging. It has been found that a mutation in a gene that produces lamin A is the cause of progeria. The deterioration of lamin A occurs in those with Hutchinson- Gilford  progeria, but also in normal elderly people, and induces cell deterioration more quickly. Is there anything that can be done to counteract this disease? What are some possible treatments, if any? If lamin A could be produced elsewhere, and then inserted into the body, could that help those diagnosed with these aging diseases? Think of recombinant DNA and the E. coli lab, could this process work with human aging like it does with human growth hormones?


 (Posted by Lindsay Pontello, lpontel4@students.d125.org

3 comments:

  1. Yes, there is something that can potentially be done in the future to counteract this disease. On page 191 of the book, Dr. Moalem references researchers that were able to “reverse the cellular damage caused by progeria” by applying a “‘molecular Band-Aid’ to progeria cells” in a lab thus eliminating the defective lamin A that caused the defective deterioration of cells. In this experiment, over 90% of the treated cells looked normal after a week. That being said, although progeria cannot be reversed in humans yet, in the future such a procedure involving the alteration of progeria cells that can manipulate gene expression of the defective lamin A may be a viable treatment for patients with progeria.
    One possible treatment for Hutchinson-Gilford progeria, verified in January 2010, is taking 10 mg of Pravastatin and 3 injections of Zoledronic acid daily. These drugs are intended to “reduce, prevent, or delay the gravet infringements of the disease”, “prolong the life of children” and improve their living conditions (http://clinicaltrials.gov/ct2/show/record/NCT00731016). There are no study results of this treatment posted publicly, but the National Institutes of Health approved it, so it can be considered at least somewhat safe and effective. Other treatments include the careful monitoring for cardiovascular and cerebrovascular disease, physical and occupational therapy, careful monitoring of growth and nutrition, and the use of growth hormone. A few other treatments involving the manipulation of gene expression have been successful among mice, but not among humans yet (http://emedicine.medscape.com/article/1117344-treatment).
    If lamin A were produced elsewhere, then inserted into the body, that may help patients with progeria, but it also may not. The cause of progeria is not the lack of lamin A, it is the mutation in a gene “that is responsible for the production of lamin A”--this means that the lamin A is defective causing cells to deteriorate rapidly (p. 184). Inserting normal lamin A may relieve the function of the defective lamin A, however it cannot be assumed that it will replace the defective lamin A. In order to help patients with progeria with assurance, the mutated gene must also be targeted and “turned off”, so the defective lamin A is no longer being produced.
    Recombinant DNA is made to increase the amount of protein production of a gene of interest by combining the human DNA with a bacterial plasmid and having the recombinant DNA transform in a host cell (for example, E. Coli). This may work in the previous scenario mentioned involving the insertion of normal lamin A. Recombinant DNA could facilitate the production of lamin A in a laboratory setting to insert into an individual. But again, the mutated gene that is responsible for the production of defective lamin A must be targeted and “turned off”. The interactions between the normal lamin A protein and the body versus the defective lamin A protein and the body relate to Big Idea 4, which states biological systems interact, and these systems and their interactions possess complex properties.

    Stephanie Li steli4@students.d125.org

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