Biotechnology Project Brochure: Duchenne muscular dystrophy

Question 1

What is Duchenne muscular dystrophy?

Answer 1

Duchenne muscular dystrophy, a genetic disorder, is characterized by gradual weakness in the muscles and impairment.

Question 2

What are genetic disorders/diseases?

Answer 2

Genetic disorders are conditions that transpire as a result of alterations made in genes or chromosomes.

Question 3

What is genetic engineering?

Answer 3

Genetic engineering is the intentional altering of the genetic material of an organism, with the intent of changing its characteristics.

Question 4

How is Duchenne muscular dystrophy inherited?

Answer 4

This genetic disorder is inherited in an X-linked recessive pattern. Given that men inherit the X chromosome from their mothers, this indicates that men are far more likely to be affected. Whilst we must not forget that every girl born will be a carrier.

Question 5

What are the symptoms that patients with Duchenne muscular dystrophy tend to exhibit?

Answer 5

• Challenges walking
• Diminution in capacity for daily tasks
• Recurring falls
• Obstacles to learning
• Enlarged calves
• Weariness or exhaustion

Question 6

What are the available treatment options for Duchenne muscular dystrophy?

Answer 6

• Steroid therapy: has been associated with improvements in pulmonary (breathing) execution, decrease the chance of scoliosis (sideways spinal curvature/deviation), boost endurance of muscles, etc.
• Viral-mediated micro-dystrophin gene replacement: uses adeno-associated virus (AAV) vectors.

Question 7

What are some of the drawbacks of some of the active treatment options?

Answer 7

Gene therapy: it has not yet received approval for medicinal purposes and currently remains in the experimental stage.
- Respiratory therapy: requires the use of a ventilator, which, if not conducted correctly, could increase the risk of infection.

Question 8

What is the average life expectancy of people diagnosed with Duchenne muscular dystrophy?

Answer 8

29.9 years
- Tends to vary, depending on the severity and any difficulties experienced with cardiomyopathy.

Question 9

What are some of the pharmaceutical approaches to alleviate pain in DMD patients?

Answer 9

• Replacement therapies, such as gene-based, cell-based, and protein-based.

Question 10

What are a few treatments for Duchenne muscular dystrophy through genetic engineering?

Answer 10

• Micro-dystrophin
• Exon-skipping: generates shorter but functional forms of dystrophin.