mtDNA
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An A to G point mutation
at position 3243 on the
Mitochondrial DNA
causes MELAS and MIDD.
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- Jargon

A-Z   A B C D E F G H I J K L M N O P Q R S T U V W X Y Z   A-Z

  A3243G

The A stands for Adenine.

The G stands for Guanine.

Both Adenine and Guanine are nucleotides of DNA.

3243 is the position on the mtDNA where there the transposition occurs.

The convention adopted for describing transposition type defects is to show the correct nucleotide (A), then the position (3243), then the incorrect nucleotide (G).

The A3243G point mutation is on the MTTL1 gene, on the Mitochondrial DNA (mtDNA), which encodes tRNA(Leu).

See Also
DNA
leu
Mitochondria
mtDNA
MTTL1
tRNA
tRNA(Leu)


Author: Andy Collinson. Although I don't have any medical qualifications, as a sufferer of Diabetes, Deafness and Tinnitus caused by the A3243G mtDNA defect, I do have a very keen interest in the subject.

Date Page Updated: 25 April 2005


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