Gunn Abilities United Club

1. Gunn Abilities United Club

2. Muscular Dystrophy February 2014

3. Muscular Dystrophy • Muscular dystrophy (MD) – group of diseases that weaken the skeletal system, affecting movement and mobility • Defects in muscle proteins, death of muscle cells and tissues • Discovered in 1860s – GuillameDuchenne observed thirteen boys who lost the ability to walk, eventually dying at a young age • The most common type of muscular dystrophy – Duchenne muscular dystrophy – is named after him!

4. How does muscular dystrophy affect people? Thanks to Patient.co.uk

5. Symptoms • Muscle weakness – even as early as age three! • Begins in hip/pelvic area and migrates toward arms and legs • “Muscles” doesn’t just mean voluntary muscles (like the muscles in your arm) – it can also include respiratory muscles! • Until very recently, life expectancy for people with muscular dystrophy was extremely low, usually up to early teenage years!

6. Research and Possible Hope Scientists are currently developing key technologies toward solving muscular dystrophy and many other genetic diseases We’ll discuss two: gene therapy and exon skipping

7. Option 1: Gene Therapy • Gene therapy – delivery or replacement of genes as a way of treating a disease • Produce different proteins that directly or indirectly affect a person’s symptoms • Why difficult? • Genes have to targeted and delivered in appropriate areas; we can’t have the immune system targeting the vehicles carrying the genes!

8. Option 2: Exon Skipping • Recall that the genetic code is dependent on the order of base pairs • Cells read these base pairs in units of three nucleotides (ex: ATC or TCG) – if the order is shifted, the “reading frame” is skewed • Scientists currently are trying to “skip” some of the nucleotides that create a dysfunctional protein – hence the name exon skipping • Unfortunately, many regulations exist for exon skipping

9. Option 2: Exon Skipping (cont.) Scientists use an alternate oligonucleotide to skip a section of DNA that codes for a dysfunctional protein Thanks to Skeletal Muscle Journal

10. Curious? • Learn more from the Muscular Dystrophy Association! • Google! • Ask about muscular dystrophy to one of the officers!

11. What’s the cause? Thanks to Sanger Institute • Generally genetically inherited (follows inheritance patterns) • Located on X chromosome; males more likely to be affected • Recent research has shown that mutations of the protein dystrophin are possible in ~33% of people affected by Duchenne muscular dystrophy • Dystrophin – protein that helps connect the cytoskeleton of a muscle fiber to its surroundings • Bottom line – lack of dystrophin = muscle degeneration

12. What can I do to help? • Join the Muscular Dystrophy Association – a movement and association dedicated toward helping those with muscular dystrophy • MDA clinic in Lucile Packard Hospital – Lucile Packard Children’s Hospital Pediatrics Neuromuscular Clinic! • Many patients with muscular dystrophy are also patients at the VA in Palo Alto! • Contact Alex Wong (alx.wong1997@gmail.com) for more information regarding volunteer opportunities • Begin your own movement!

13. Thank You