Transfer RNA, Mitochondrial, Serine, 1

Alternative Names

  • MTTS1
  • tRNA-Ser, Mitochondrial, 1

Description

Mitochondrial DNA is multicopy and maternally inherited.  mtDNA has 16,500 basepairs and codes for 37 genes; 13 polypeptides, 22 transfer RNA (tRNA) and two ribosomal RNA (rRNA).  Transfer RNAs (tRNAs) are key molecules in protein biosynthesis in all living organisms.  They have specific structural properties allowing interactions with several partners such as their cognate aminoacyl-tRNA synthetases (aaRSs), elongation factor, mRNA or ribosome.  MT-TS1 is a small 69 nucleotide RNA that transfers the amino acid serine into the growing polypeptide chain at the ribosome site of protein synthesis during translation.

Molecular Genetics

The MT-TS1 gene is located in mitochondrial DNA between 7,445-7,513 base pairs.  Mutations in this gene have been associated with myoclonic epilepsy with ragged-red fibers (MERRF), palmoplantar keratoderma with deafness, and nonsyndromic deafness.  Those most often associated with nonsyndromic deafness include: m.7445A>C/G/T and m.7510T>C.  About 30% of cases of mitochondrial hearing loss are due to mutations in the MT-TS1 gene.

Epidemiology in the Arab World

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Other Reports

Saudi Arabia

In order to determine the role of mitochondrial DNA mutations in thyroid tumorigenesis, Abu-Amero et al. (2005) sequenced the entire mtDNA from 24 thyroid tumor specimens and four thyroid cancer cell lines.  Somatic mutations were identified in 37% of primary thyroid carcinomas (PTC) and among 25% of multinodular hyperplasia cases.  Most mutations were nucleotide substitutions resulting in missense mutations.  Of these sequence changes, 14 were nonsynonymous and 36 were synonymous.   A homozygous 7476.C>T nonsynonymous mutation was detected in the tRNA-ser gene.

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