Chuck wrote:
This mitochondrial DNA region codes for tRNA glutamic acid (a transfer RNA; MT-TE is a small 69 nucleotide RNA (human mitochondrial map position 14674-14742) that transfers the amino acid glutamic acid to a growing polypeptide chain at the ribosome site of protein synthesis during translation).
Trying to remember biochemistry. If this is a mutation in a tRNA, doesn't the effect depend very much on whether the mutation is in the bit that binds to the messenger RNA? There the consequence should be that this tRNA (sometimes) puts glutamic acid where a different amino acid should be. Whether it happens would depend on whether the correct tRNA happens to get there first or not. That would be a random process.
If the mutation is in one of the regions responsible for how the tRNA folds, then the shape would change. That might affect how it binds to the mRNA. More likely it affects how it binds to the amino acid it is supposed to carry. In the most extreme case, the tRNA might bind something else, perhaps not even an amino acid. I don't know whether that would stop protein production when that tRNA binds to the mRNA, or just slow it down by making the ribosome wait until the useless tRNA is gone again. the mutated tRNA might bind better to glutamic acid and not let it go. It might bind worse, slowing down protein production because the concentration of tRNAs with glutamic acid bound to them would be too low.
A mutation in a region that isn't producing a protein means the consequence does not have to be a an amino acid substitution in one protein.
It's been a while since I learned biochemistry, and I didn't go into depth. Check my reasoning with someone competent.