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Duchenne muscular dystrophy

Duchenne muscular dystrophy is a complex condition and so is the science relating to it.  However, over time families are often amazed by how much they come to understand.

We have compiled a glossary of terms commonly used when discussing the science of human biology and genetics to help you understand Duchenne.

The glossary is arranged in alphabetical order, but to search for a specific term you can click ‘Ctrl + f’ or use the search box at the bottom of each page. 

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Glossary of terms

AAV (adeno-associated virus) – A small, harmless virus which is used as a carrier/vehicle to transport genetic cargo to cells in the body (for example, muscle cells).
Amino acids – The building blocks of a protein.
Antioxidant – A substance that slows down the rate of damage to other substances as a result of reactions with oxygen.
Antisense Oligonucleotide (AON) – An antisense drug binds to and inactivates a mutated exon within a gene to stop it from being recognised by the cell. Acts as a molecular patch to mask errors in the genetic code.
Biomarkers – Biological substances found in blood/urine that can be used as an indicator of disease and to show how well the body responds to certain treatment.
Cardiomyopathy – Refers to damage of the heart
Dystrophin – A protein which acts as a shock-absorber to prevent damage to muscles upon contraction.
Fibrosis – The thickening/scarring of connective tissue as a result of injury.
Genome – The body’s complete set of genetic instructions.
Genome editing – A type of genetic engineering where DNA is inserted, deleted or replaced using ‘molecular scissors’.
Genotype  The genetic makeup of a cell.
Inflammation – Usually a healthy response known to aid in the cleanup and restoration of damaged muscle
Mdx mouse – The dystrophic mdx mouse model has a point mutation in its dystrophin gene. Most experiments are performed on the mdx mouse.
Mitochondria – The powerhouse of the cell that generates the cell’s energy.
Muscle cellular stress – refers to the way that muscle cells respond when they are exposed to stress, for example, stress caused by a lack of dystrophin.
Myostatin – is a protein produced naturally in the body and inhibits muscle growth
NF-kB – A protein complex involved in inflammatory signalling.
Nonsense mutation – Where a mutation in a protein coding sequence results in a stop codon and produces a short protein.
Oxidative stress – An imbalance between the production of reactive species and the ability of the body to detoxify/counteract their harmful effects. 
Rare repurposing – taking a drug which is intended to treat one patient population and using it for the treatment of a different group of patients.
Ribosomes – Complex molecules which essentially form a factory for protein synthesis in cells. The cellular structure involved in decoding your DNA.
RNA – Its principal role is to act as a messenger carrying instructions from DNA for controlling the synthesis of proteins.
Satellite Cells – Immature muscle cells with the potential to develop into tissue such as skeletal muscle.
Sodium/Calcium exchanger – Small protein found in cells; it removes calcium and allows sodium to enter.
Stem Cells – Cells which have the potential to develop into any other type of cells in the body, for example, blood cells, skin cells or muscle cells.
Testosterone – Corticosteroid treatment will compromise growth and delay puberty. Whether exogenous testosterone can promote growth and development remains unclear.
TGF-β – A signalling molecule which regulates fibrosis and inflammation in tissues. Increased signalling is associated with muscular dystrophies.  
Utrophin – A naturally occurring protein in the body which is about 80% similar to dystrophin.
Vector – A carrier to transfer genetic material into a cell.
X-linked inheritance – The gene mutated is located on the X chromosome. Girls who have this gene are usually not affected but are carriers of the disease and have a 50% chance of passing the faulty gene onto their children.

Scientists aren’t just robots in a lab, they are real human beings, many are parents themselves who understand the urgency of the situation we have found ourselves in with a Duchenne diagnosis. To see that emotion and feel the passion in their work was, in lots of ways, humbling.

Shelley Simmonds (Parent)

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