Gunn Abilities United Club

Muscular Dystrophy

February 2014

Muscular DystrophyMuscular 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

SymptomsMuscle 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 HopeScientists 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 TherapyGene 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 SkippingRecall 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 (alx.wong1997@gmail.com)

for more information regarding volunteer opportunities

Begin your own movement!

Thank You