Mitochondrially encoded tRNA asparagine also known as MT-TN is a transfer RNA which in humans is encoded by the mitochondrialMT-TNgene.[1]
Structure
The MT-TN gene is located on the p arm of the non-nuclear mitochondrial DNA at position 12 and it spans 73 base pairs.[2] The structure of a tRNA molecule is a distinctive folded structure which contains three hairpin loops and resembles a three-leafed clover.[3]
Function
MT-TN is a small 73 nucleotide RNA (human mitochondrial map position 5657-5729) that transfers the amino acid asparagine to a growing polypeptide chain at the ribosome site of protein synthesis during translation.
Clinical significance
Ophthalmoplegia
Mutations in MT-TN have been associated with isolated ophthalmoplegia. Ophthalmoplegia is a condition characterized by eye muscle weakness. Common symptoms of the disorder include hearing loss, loss of sensation in the limbs, ataxia, and neuropathy.[4] Multiple mutations of 5692A>G and 5703G>A have been found in patients with ophthalmoplegia.[5][6][7] Such mutations in MT-TN resulted in a failure in oxidative phosphorylation and protein synthesis of the mitochondria. In addition, a 5728A>G transition of MT-TN was found to result in a combined deficiency of complex I and IV, with symptoms of failure to thrive, renal failure, and mental retardation.[8]
^Vives-Bauza C, Del Toro M, Solano A, Montoya J, Andreu AL, Roig M (2003). "Genotype-phenotype correlation in the 5703G>A mutation in the tRNA(ASN) gene of mitochondrial DNA". Journal of Inherited Metabolic Disease. 26 (5): 507–8. doi:10.1023/a:1025133629685. PMID14518831. S2CID28445072.
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