MT-TS1

MT-TS1
Identifiers
Symbol	?
HGNC	7481
OMIM	590080
RefSeq	NC_012920
UniProt	P00001
Search for Structures Swiss-model Domains InterPro

MT-TS1 (Mitochondrially Encoded tRNA Serine 1) is a gene located in the mitochondrial DNA that encodes for a transfer RNA (tRNA) specific for the amino acid serine. This tRNA is crucial for the translation of mitochondrial mRNA into proteins within the mitochondria, which are essential for the cell's energy production.

Structure

MT-TS1 is part of the mitochondrial genome, which is distinct from the nuclear genome. The mitochondrial genome is circular and contains 37 genes, including 13 protein-coding genes, 22 tRNA genes, and 2 rRNA genes. MT-TS1 is one of these 22 tRNA genes and is specifically responsible for the incorporation of serine into growing polypeptide chains during mitochondrial protein synthesis.

Function

The primary function of MT-TS1 is to serve as a tRNA for serine in the mitochondria. tRNAs are adaptor molecules that translate the genetic code from mRNA into the amino acid sequence of proteins. MT-TS1 recognizes the codons for serine in the mitochondrial mRNA and facilitates the addition of serine to the elongating polypeptide chain during translation.

Clinical Significance

Mutations in the MT-TS1 gene can lead to mitochondrial dysfunction, as the proper translation of mitochondrial proteins is disrupted. This can result in a variety of mitochondrial diseases, which are often characterized by neuromuscular symptoms due to the high energy demands of muscle and nerve cells. Specific mutations in MT-TS1 have been associated with conditions such as Mitochondrial Myopathy, Leigh Syndrome, and other mitochondrial disorders.

Research

Ongoing research is focused on understanding the precise mechanisms by which MT-TS1 mutations lead to disease, as well as developing potential therapies to correct or compensate for these genetic defects. Techniques such as mitochondrial replacement therapy and gene editing are being explored as potential treatments for mitochondrial diseases.

Also see

• Mitochondrial DNA
• Transfer RNA
• Mitochondrial Diseases
• Leigh Syndrome
• Mitochondrial Myopathy