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mt-tw: MT-TW is a mitochondrial tRNA gene, specifically one of the 22 mt-tRNAs encoded on the mitochondrial genome's H-strand, which is essential for the proper translation of mitochondrial proteins [PMC9657367]. The m.5541C > T mutation in the MT-TW gene disrupts base pairing in the anticodon stem, leading to a T-G mismatch and consequently impairing the translation machinery for mitochondrial tryptophan [PMC4546323]. This mutation has been associated with a disease phenotype, as evidenced by a patient with MELAS syndrome showing multiple organ involvement and carrying this heteroplasmic mutation [PMC4546323]. Interestingly, MT-TW mutations exhibit a unique pattern of deficiencies in oxidative phosphorylation complexes, with complex IV showing a less severe deficiency compared to other mt-tRNA mutations [PMC4606788]. Despite its association with disease, statistical analysis suggests that this particular gene's mutation does not reach significance when considering multiple testing corrections [PMC4350597].
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