Muscular Dystrophy By: Michael Taffe

History

Duchenne Muscular Dystrophy (DMD) was first discovered by Guillaume Benjamin Amand Duchenne, a French scientist in the 1860s. In 1986 and 1987, breakthroughs were made leading to the cause of the disease being discovered. A team funded by the Muscular Dystrophy Association found that the mutation happened in the X chromosome, which means that it is a sex-linked disease. DMD is also a recessive trait. When mutated in a certain way, the protein dystrophin is produced less. It was discovered that when the protein was not present in the muscle tissue, the muscle became fragile. Fatty tissue and fibrotic material also form on the muscle as a result of DMD.

Who Can be Affected?

There are two diseases caused by having a scarcity of dystrophin. The first is Duchenne Muscular Dystrophy (DMD). This disease usually shows up by the age of five, but can occur as early as three years old. The disease will almost always occur in males, but there have been rare cases of females with the disease. The reason for this is that the gene mutation occurs in the X chromosome, and males only have one copy. If a female has the disease in one of her X chromosomes, the body is set to default to use the other, properly functioning X chromosome. The second disease is Becker Muscular Dystrophy (BMD). This disease happens when the body produces more dystrophin than in DMD, but not enough for the muscles to function properly. The onset of BMD usually occurs anywhere between the early teens to the mid-twenties. Like DMD, BMD occurs primarily in males.

Symptoms

Every muscle is affected by DMD and BMD. Your muscles are weakened and fragile, often causing the affected individuals to need a wheelchair. The muscles develop fatty tissue on them, further weakening the system. Respiratory failure is also common, due to a weakened diaphragm. Finally, Heart issues are common, because the heart is just a cluster of muscles.

Luckily, DMD is an fairly rare disease, with only around 200,000 reported cases in the United States per year. Although the ideal number is zero, compared to a disease like cancer, of which 1,700,000 diagnoses happened in 2016 in the United States, 200,000 doesn't seem that large.

New Research Brings Hope

In January 2017, A scientist that was studying DMD at the Univertsity of Texas was awarded $250,000 to further his research on using CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats) to treat muscular Dystrophy. CRISPR makes gene modification cheaper and reduces the time needed to do so. Using an enzyme called CAS9, scientists can remove the mutated DNA.

Daignoses

A Diagnoses of DMD and BMD is relatively simple. A simple DNA test can find the Duchenne mutation.

Sources

  • Resources
  • Mayo CLinic. "Muscular Dystrophy - Google Search." GOOGLE. Alphabet, n.d. Web. 03 Feb. 2017. Google pulls information from multiple sources to give the most accurate results. Some of these include Mayo Clinic, the World Health Organization, The FDA, and The National Library of medicine
  • "Duchenne Muscular Dystrophy (DMD)." Muscular Dystrophy Association. Muscular Dystrophy Association, 20 Sept. 2016. Web. 03 Feb. 2017
  • "How Is Muscular Dystrophy Diagnosed?" National Institutes of Health. U.S. Department of Health and Human Services, n.d. Web. 03 Feb. 2017.
  • Henriques, Caroline. "Study of Treating Duchenne MD Through Gene Editing Awarded $250K Grant." Muscular Dystrophy News. N.p., 31 Jan. 2017. Web. 03 Feb. 2017.
  • Kurzgesagt. "Genetic Engineering Will Change Everything Forever – CRISPR." YouTube. YouTube, 10 Aug. 2016. Web. 03 Feb. 2017.
  • "Cancer Facts & Figures 2016." Cancer.orh=g (2016): 1. American Cancer Society, 2016. Web. 3 Feb. 2017. <https://old.cancer.org/acs/groups/content/@research/documents/document/acspc-047079.pdf>
  • Http://www.youtube.com/channel/UCNI0qOojpkhsUtaQ4_2NUhQ. "Duchenne & Becker Muscular Dystrophy - Causes, Symptoms, Treatment & Pathology." YouTube. YouTube, 11 Aug. 2016. Web. 03 Feb. 2017. <https://www.youtube.com/watch?v=DGOmN6rnsNk>.
  • Photos
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  • Wallpaper Up. Cancer Wallpaper. 2016. Wallpaperup.com
  • Wallpaper Up. Test Tube Wallpaper. 2015. Wallpaperup.com

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