MTFMT

Mitochondrial methionyl-tRNA formyltransferase is a protein that in humans is encoded by the MTFMT gene.^[3]

The protein encoded by this nuclear gene localizes to the mitochondrion, where it catalyzes the formylation of methionyl-tRNA.^[3] Recessive-type mutations in MTFMT have been shown to cause mitochondrial disease ^[4]

Model organisms

Model organisms have been used in the study of MTFMT function. A conditional knockout mouse line, called Mtfmt^{tm1a(KOMP)Wtsi[9][10]} was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists — at the Wellcome Trust Sanger Institute.^[11][12][13]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.^[7][14] Twenty six tests were carried out on mutant mice and two significant abnormalities were observed.^[7] During gestation homozygous mutant embryos displayed lethal growth retardation and oedema. In a separate study, no homozygous animals were observed at weaning. The remaining tests were carried out on adult heterozygous mutant animals, but no further abnormalities were seen.^[7]

References

Further reading