A B C D E F G H I L M N O P R S T U V W X Z
A chemical substance which helps to transmit a signal from the nerve to the muscle causing it to contract.
- Acetylcholine receptors (AChRs)
Proteins found in the membrane surrounding the muscle cell to which acetylcholine binds.
- Adeno-associated virus (AAV)
AAV (Adeno-Associated Virus) is a small virus, which infects humans and some other primate species. AAV is not currently known to cause disease and causes a very mild immune response. These features make AAV a very attractive vehicle for delivering genes into cells (gene therapy).
- Amino acids
The ‘building blocks’ of proteins. The sequence of amino acids determines the shape, properties and role of the protein.
The removal of a sample of amniotic fluid (the fluid around an unborn baby) for prenatal testing. Cells in the fluid are tested for certain abnormalities.
Any one of several hormones, such as testosterone, that promote the development of male characteristics.
- Androgen receptor
A specialised protein found in a number of tissues, to which androgen binds. Mutations in the androgen receptor gene can cause spinal and bulbar muscular atrophy.
- Animal models
Animals with conditions similar to those affecting humans, which can be used to study disease processes and test potential therapies. Animal models with a genetic condition have a similar mutation to the one present in humans with the condition. The mutation has either occurred naturally in the animals or has been induced in the laboratory.
Proteins made by the body to protect itself from “foreign” substances such as bacteria or viruses
- Antisense oligonucleotide
A short piece of genetic material (DNA or RNA) which can bind to a specific gene and change how the code is read. They can be used as a “molecular patch” to mask errors in the genetic code, this is known as exon skipping and this is in clinical trial for Duchenne muscular dystrophy. Certain types of antisense oligonucleotides are also being investigated in the laboratory for their ability to completely switch off genes, this is known as gene silencing.
A process of programmed cell death by which cells undergo an ordered sequence of events which lead to death of the cell. Cells may undergo apoptosis if they have sustained unrepairable damage.
- Autoimmune disorders
Conditions in which the immune system produces antibodies that attack the body’s own cells, for example, dermatomyositis, polymyositis and myasthenia gravis.
The body’s own tissues or DNA.
- Autosomal inheritance
Affects both males and females equally. The abnormal gene is not on the X or Y chromosomes (known as the sex chromosomes).
The long, hair-like extension of a nerve cell that carries a message to the target cell such as a muscle cell
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