Evans, Shannon

Person Number: 36298925

Bio 129 – Lab #1
Kunsang Dolma

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1. Duchenne’s muscular dystrophy (DMD) is a severe form of muscular dystrophy. DMD

is the process of muscle degeneration. This is common in most cases in muscular dystrophy but

Duchenne’s is extremely serious because of the rapid rate the disease progresses. It is one of the

most common forms of muscular dystrophy and effects about 1 out of 3500 males. Females can
also have DMD but it is rare. At the end stage of DMD loss of movement becomes paralysis. The

average life span of a person with this harsh disease is anywhere from the mid-teens to early

thirties. Since the deterioration of the muscles in a DMD patient happens so quickly their

muscles weaken early on in their life. Most are brace, or wheel chair bound by 12. When muscles

are broken down they are then replaced by fat, this process is Fibrosis. The breakdown of the

muscles can also cause abnormal development of the skeletal structure. Muscles are weakened

because the protein Dystrophin is absent in the muscles. This protein is very important because it

helps build the structure of muscle tissue. This protein is missing because there is a mutation in

the gene DMD. This gene is on the X chromosome. You can diagnose this disease through gene

testing, muscle biopsies, or analyzing patient’s symptoms. Some symptoms of DMD are fatigue,

motor skill difficulties, awkward posture, walking, or running, skeletal and muscle deformities.

Symptoms are commonly present in children before they turn 6. As of now there is no known

cure for DMD patients.

2. It is not surprising that Kim’s two daughters do not have Duchenne’s MD because they

have two X genes, whereas a male only has one. Since girls have two x genes they automatically

have another set without the mutation, this can be considered a back up for the other X gene.

However women can still be carriers of the mutation, and pass the disease on. Boys only have

one X gene so therefore if anything is wrong, it doesn’t have any way to make the correct

protein. Sometimes females can show symptoms of DMD when the other gene isn’t producing

high enough levels of Dystrophin.

3. Experimental cell therapy is the process of injecting healthy stem cells into a

Duchenne’s patient to see if the healthy cells can replace the dystrophin needed to strengthen and

preserve the muscular structure of the human body. Stem cells are cells that are not yet
specialized, so they can be used for many different purposes. They can specialize into what they

are needed for. Stem cells can reproduce themselves, so implementing one cell has the potential

to cure many types of genetic based diseases and disorders. The most common way to retrieve

stem cells is from embryos. They are still in the processing of trying to develop stem cells in labs

but even a lab-made stem cell would probably not reap the benefits of a real cell taken from the

embryo. This is a controversial topic of its own, but is important in understanding how important

stem cells could work for future medical research. This also shows that stem cell experimental

treatments are hard to come by, because stem cells are hard to retrieve, and studies have to fight

ethical standards in order to start their experiments. Kim has a huge decision on whether or not to

enroll her sons in this study because the chance may not be available again. For DMD patients

the stem cells would produce many pre-skeletal muscle cells (myoblasts). Stem cells used for

bone marrow developments in muscular dystrophy patients have been proved ineffective. The

stem cells working as myoblasts is the lead for new research. The first tests were done on mice,

the results were good so the experiments continued with dogs, whose DMD is closer to that of

humans. Overall the dog’s muscular statures improved, but some of the individual dog’s health

steadily declined, even though all dog’s had the exact same form DMD. If Kim decides to allow

her son’s to participate in the study, they could gain new and successful treatment, long before

the methods are approved by the food and drug administration (FDA), but there could also be

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Con’s to this choice. The stem cells may not work, be rejected, or even worse could cause other

reactions that could make the boys sick. Since it is a study, it is not guaranteed to be 100% safe,

but the benefits could be worth the risk.

 4. Cell therapy is not the only experimental research for DMD out there. Another therapy

with similar goals is Gene therapy. Instead of the transplantation of a cell, gene therapy is the use

of DNA to manipulate cells already in the body. There have been no successful applications of

gene therapy in humans, but scientists feel they are on the verge of a breakthrough that could

help many hereditary diseases, including Muscular Dystrophy. There is proof that gene therapy

has worked. It was proven effective when treating animals with hemophilia. Doctors feel that

even though Gene therapy is still in its early stages, with enough willing human participants it

could rapidly develop to provide miracle cures for some incurable diseases. It has also proven in

its animal testing to be safer then stem cell experiments. A concern some people have with

modifying genetic material is that there are potential for errors. There have indeed been some

downfalls when it came to the first human participants in gene therapy, but doctors are saying it

is safer now than ever, and is even considered safer then cell therapy.

5. If I were Kim I would enroll my children in the study. With a disease like Duchenne’s

Muscular Dystrophy there really is no time to wait. Although I understand her decision is very

difficult, time is of essence when it involves a rapidly progressing disease. I would give cell

therapy the benefit of the doubt, previous studies have yielded good results. She should take

advantage of the opportunity while she can. The possible risks are scary, but to think of the boys

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Health declining so quickly with no hope is even scarier. At this point it truly is a life or death

situation in which I feel they have a lot to gain, and not much to lose.

Works Cited Evans 4

"Gene Therapy vs. Cell Therapy." American Society of Gene and Cell Therapy. 2009. Web. 21 Sept.

2009. <http://www.asgt.org/about_gene_therapy/genevscell.php>.

Grounds, Miranda D., and Kay E. Davies. "The allure of stem cell therapy for muscular dystrophy."

ScienceDirect. UB Libraries, Mar. 2007. Web. 21 Sept. 2009.

<http://www.sciencedirect.com/science?_ob=ArticleURL&_udi=B6T9T-4N2D5XX-

4&_user=681891&_rdoc=1&_fmt=&_orig=search&_sort=d&_docanchor=&view=c&_searchStr

Id=1029164919&_rerunOrigin=google&_acct=C000037419&_version=1&_urlVersion=0&_use

rid=681891&md5=402f06db30305e4fc910f7bc6ec96240>.

Wahl, Margaret. "BUT GIRLS DON'T GET DUCHENNE -- OR DO THEY?" MDA. Jerry Lewis, Dec.

1998. Web. 20 Sept. 2009. <http://w ww.mda.org/publications/quest/q56girlsdmd.html>.