A53T Mutation
A53T Mutation
The A53T Mutation (pronounced as "A fifty-three T Mutation") is a specific genetic mutation that is associated with certain forms of Parkinson's disease.
Etymology
The term "A53T Mutation" is derived from the specific change that occurs in the DNA sequence of the SNCA gene. The "A" refers to the amino acid alanine that is normally present at position 53, and the "T" refers to the amino acid threonine that replaces it due to the mutation.
Definition
The A53T Mutation is a point mutation, a type of mutation where a single nucleotide base is changed, inserted or deleted from a sequence of DNA or RNA. In the case of the A53T Mutation, the mutation results in the substitution of the amino acid alanine (A) at position 53 with threonine (T) in the protein alpha-synuclein, which is encoded by the SNCA gene.
Association with Parkinson's Disease
The A53T Mutation is one of the mutations associated with familial forms of Parkinson's disease. The mutation is thought to increase the propensity of alpha-synuclein to form toxic aggregates in neurons, leading to neuronal death and the symptoms of Parkinson's disease.
Related Terms
External links
- Medical encyclopedia article on A53T Mutation
- Wikipedia's article - A53T Mutation
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