Overview of the Latest Chapter in Muscular Dystrophy Research

There are more than thirty types of inherited diseases that fall under Muscular Dystrophy (MD). These diseases attack the muscular system and result in muscle weakness and loss. The different forms of MD affect people differently. Some appear in childhood, while others don’t appear until much later in life.

Different people are susceptible to different variations of the disease, which muscles are targeted, and even which symptoms present themselves. Unfortunately presently, there is no cure for MD, and most people who contract it eventually lose the ability to walk. With current research, however, science is making tremendous leaps and bounds towards finding a treatment and cure.

1. The Most Common Form of MD
Duchenne MD is the most common inherited disease form. Symptoms present themselves as early as the age of three, and affect the muscles closest to the torso. Upper arm, pelvic, and thigh muscles are the first to deteriorate, but DMD will eventually cause problems with other muscles as well. As the disease progresses, most of the affected individuals will eventually be confined to a wheelchair.

Research shows that DMD is an X-linked disease, which means that men make up the majority of those affected. Since men only have one X chromosome, if he inherits an X chromosome with the abnormal gene from his mother,he will develop the disease. Women have two X chromosomes, so if one of the has the abnormal gene they are a carrier for the disease,but will not necessarily display symptoms.

The DMD gene tells the body to produce dystrophin, a protein that helps the body build muscle fibers. A mutation of the gene causes the body to not produce the dystrophin protein. As a result, more and more muscle fiber is lost overtime and is unable to be replaced.

Unfortunately, this muscle deterioration can cause several other severe complications. Heart failure is common, as the muscles in the torso deteriorate, so does the heart. Respiratory infections, respiratory failure, and trouble with the digestive system increase in frequency for those that have DMD as the torso muscles fail. Autism, attention deficit disorders, and learning disabilities also affect one-third of those with DMD.

DMD does not usually cause an affected person to develop an autoimmune disease, where the immune system attacks the body’s healthy cells. However there was one instance in 1980 when DMD was determined to be the cause of the patient developing autoimmune hemolytic anemia.

2. Recent Advances in Research
One of the biggest advances concerning muscular dystrophy in the last ten years is that scientists identified the specific gene that causes facioscapulohumeral dystrophy (FSHD). This discovery could very well lead to the development of a treatment to slow the progression of the disease.

The DUX4 gene is a protein that is toxic when it’s not expressed correctly and does not usually occur in the adult muscles. When this gene behaves abnormaly, it causes the body to develop FSHD. This particular disease is so genetically complex, that most scientists had focused their efforts on other MD variations.

However, now that the gene that causes FSHD has been identified, clinical trials can begin with the hopes of finding a better treatment or possibly a cure. At this stage, the goal of the clinical trials is not to treat any one single person, but to gather data and find an answer for everyone.

3. Fundraising and Supporters
In addition to the identification of the gene that causes FSHD, there are efforts in progress to develop new treatments for the different forms of MD. Exonics Therapeutics is trying to develop a gene editing treatment for Duchenne MD. This technology is supposed to be able to repair the defective gene in a living person, help them live with the disease, and potentially help develop a cure.

The gene repair technology is currently in the preclinical trial development stages, but it just received $40 million in financing from The Column Group (TCG), a leading healthcare venture capital firm. Early tests with mice have been successful. The dystrophin production, skeletal, and muscular systems have seemed to improve. The way the early research is going, the technology promises compelling data and new therapies in treating DMD.

Other forms of MD have received financing from several different sources. Top celebrities, such as Brad Paisley, Joan Jett, and Jason Derulo, have all donated significant amounts to the Muscular Dystrophy Association as well to help further the development of new and more effective treatments for the different forms of MD.

Conclusion
MD is a debilitating disease that is very complicated and has many variations because of its gene component. Recent research has made leaps and bounds in terms of understanding DMD and the gene that causes FSHD. Massive funding endeavors have made it possible to develop potential gene editing technologies, providing a hope for a treatment that was not there previously.