Gunn Abilities United Club

Muscular Dystrophy February 2014

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 – Guillame Duchenne 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!

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

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!

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

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!

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

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

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

What’s the cause?  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 Thanks to Sanger Institute

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 for more information regarding volunteer opportunities  Begin your own movement!

Thank You