MT-TF

MT-TF is a gene that in humans encodes the mitochondrial transfer RNA for phenylalanine (tRNA^Phe). This gene is located within the mitochondrial genome, and mutations in this gene have been associated with various mitochondrial disorders.

Structure

The MT-TF gene is located on the mitochondrial DNA, from base pair 577 to 647, and it contains only one exon. The structure of a tRNA molecule is a distinctive folded structure which includes four base-paired stems and three loops. The MT-TF gene, like other mitochondrial tRNA genes, encodes a small RNA molecule that can fold into this cloverleaf structure.

Function

The MT-TF gene encodes a member of the phenylalanine-tRNA ligase family. This enzyme is responsible for the esterification of phenylalanine to its corresponding tRNA, which is necessary for the incorporation of phenylalanine into proteins during protein synthesis. This is a critical step in the process of translation, the process by which the genetic code in mRNA is read to make proteins.

Clinical significance

Mutations in the MT-TF gene have been associated with various mitochondrial disorders, including Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), Myoclonic epilepsy with ragged red fibers (MERRF), and Leber's hereditary optic neuropathy (LHON). These disorders often involve a combination of muscle and nervous system problems and can have other symptoms as well.

See also

• Mitochondrial DNA
• Transfer RNA
• Mitochondrial disease

References

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