MT-TP

MT-TP is a gene that provides instructions for making a molecule called mitochondrial transfer RNA for phenylalanine (tRNA^Phe). This molecule plays a crucial role in the production of proteins within mitochondria, the energy-producing centers within cells.

Function

The MT-TP gene is located within mitochondrial DNA, which is found in the mitochondria. Unlike most DNA, which is located in the nucleus of cells, mitochondrial DNA is separate and has its own set of genes. The MT-TP gene provides instructions for making a molecule that helps assemble protein building blocks (amino acids) into functioning proteins. Specifically, the MT-TP gene produces a molecule that helps incorporate the amino acid phenylalanine into new proteins.

Clinical significance

Mutations in the MT-TP gene have been associated with several mitochondrial disorders, including mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), myoclonic epilepsy with ragged-red fibers (MERRF), and Leigh syndrome. These conditions often involve muscle weakness and pain, seizures, and problems with movement and balance.

See also

• Mitochondrial disease
• Mitochondrial DNA
• Mitochondrial tRNA
• Phenylalanine

References

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