What is the function and significance of the Mitochondrial Translational Factor Related (MTFR) gene?

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Last updated: April 3, 2025View editorial policy

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From the Research

The MTFMT gene plays a crucial role in mitochondrial protein synthesis, and mutations in this gene have been associated with various neurological and metabolic disorders, including Leigh syndrome and combined oxidative phosphorylation deficiency, as evidenced by studies such as 1 and 2. The MTFMT gene encodes a protein that is essential for the initiation of mitochondrial protein synthesis, which is necessary for the production of functional mitochondria. Located on the mitochondrial genome, this gene produces a protein that localizes to the mitochondria and helps regulate the translation of mitochondrial DNA. Current data shows that MTFMT is involved in controlling the formylation of methionyl-tRNA, which is necessary for the initiation of mitochondrial protein synthesis. Research indicates MTFMT is expressed in various tissues, with particularly high levels in metabolically active organs like the heart, liver, and kidneys. The gene has been implicated in several biological processes including cellular respiration, reactive oxygen species regulation, and apoptosis. Some studies suggest potential associations between MTFMT variants and conditions like metabolic disorders, cardiovascular diseases, and certain cancers, though these connections require further investigation, as noted in studies such as 3 and 4.

  • Key points about the MTFMT gene include:
    • It is essential for mitochondrial protein synthesis
    • Mutations in the gene have been associated with various neurological and metabolic disorders
    • The gene is expressed in various tissues, with high levels in metabolically active organs
    • It has been implicated in several biological processes, including cellular respiration and apoptosis
    • Further research is needed to fully understand the role of MTFMT in human disease, as highlighted in studies such as 5, which discuss the importance of mitochondrial function in health and disease. In summary, the MTFMT gene plays a critical role in maintaining mitochondrial function, and mutations in this gene can have significant consequences for human health, emphasizing the need for continued research into the function and regulation of this gene, as well as the development of targeted therapies for related diseases, as discussed in 3.

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