Tsfm-flox Mouse

TSFM, encoding the elongation factor Ts (EFTs), is a nuclear gene and an essential part of the mitochondrial translational machinery. It forms a complex with mitochondrial Tu translation elongation factor (TUFM) to participate in mitochondrial protein translation, playing a crucial role in the elongation step of mitochondrial translation by binding and stabilizing EF-Tu [2,3,6].

Mutations in TSFM are associated with various disorders. For instance, in a 5-year-old boy, a novel homozygous TSFM variant c.547G>A (p.Gly183Ser) was identified, leading to infantile early-onset encephalocardiomyopathy, sensorineural hearing loss, and peculiar partially reversible neuroimaging features, expanding the phenotypic spectrum of TSFM-related encephalopathy [2]. A 3-year-old female with compound heterozygous variants in TSFM presented with hypertrophic cardiomyopathy and lactic acidosis, and a 33-year-old woman with two novel compound heterozygous variants in TSFM had mitochondrial cardiomyopathy with dilated phenotype and biventricular fibro-adipose replacement [5,6]. Additionally, TSFM mutations can cause a complex hyperkinetic movement disorder [1], and novel mutations in the gene can lead to early-onset complex chorea without basal ganglia lesions [4].

In conclusion, TSFM is vital for mitochondrial protein translation. Research on TSFM-related genetic mutations in patients reveals its significant role in multiple disease areas, including neurodegenerative and cardiomyopathic disorders. Understanding TSFM helps in unravelling the mechanisms underlying these diseases and may provide directions for future treatment strategies.