MT-TR

MT-TR is a gene that in humans encodes the mitochondrial tRNA for the amino acid arginine. This gene is located within the mitochondrial DNA and is involved in the process of protein synthesis within the mitochondrion. Mutations in this gene have been associated with various mitochondrial diseases, including mitochondrial myopathy and mitochondrial encephalomyopathy.

Structure

The MT-TR gene is located in the mitochondrial genome at the base pair 10405 to 10476, making it one of the 37 genes found in the human mitochondrial genome. The gene is 72 base pairs long. The structure of the MT-TR gene, like other mitochondrial tRNA genes, is unique in that it lacks introns and its exons are immediately adjacent to each other.

Function

The MT-TR gene encodes a 76-amino acid mitochondrial tRNA molecule for the amino acid arginine. This tRNA is a critical component of the mitochondrial protein synthesis machinery, which synthesizes 13 essential subunits of the mitochondrial respiratory chain. The tRNA carries the specific amino acid to the ribosome for incorporation into the growing polypeptide chain during protein synthesis.

Clinical significance

Mutations in the MT-TR gene have been associated with a variety of mitochondrial diseases. These diseases are typically multisystem disorders that affect tissues with high energy demands, such as the brain, heart, and skeletal muscles. Symptoms can range from mild to severe and can include muscle weakness, neurological problems, and organ failure.

One specific mutation in the MT-TR gene, m.10406G>A, has been associated with mitochondrial myopathy and mitochondrial encephalomyopathy. These diseases are characterized by muscle weakness, exercise intolerance, and neurological problems.

See also

• Mitochondrial DNA
• Mitochondrial disease
• Mitochondrial myopathy
• Mitochondrial encephalomyopathy