![]() ![]() Intellectual disability/developmental delay may be observed in both groups. In the second group, spastic paraplegia is associated with weakness of the lower extremities, spasticity and difficulties with walking. MRI studies of patients with early-onset disease often reveal global brain atrophy, cerebellar and basal ganglia abnormalities. While the former group has a typically poorer prognosis, the latter is associated with less severe disease and prolonged survival. To date, 32 FARS2 variants have been linked to two major clinical presentations: (a) early-onset epileptic mitochondrial encephalopathy in about two-thirds of the cases and (b) spastic paraplegia. Their complex interactions and conformational changes enable mtPheRS to function as a monomer during aminoacylation. MtPheRS contains four major domains: an N-terminal domain, a catalytic domain, a linker region (residues 290–322) and an anticodon-binding domain (ABD). Inhibition of mitochondrial translation results in isolated or multiple OXPHOS deficiencies and mitochondrial disease.įARS2 (OMIM# 611592) encodes the mitochondrial phenylalanyl-tRNA synthetase (mtPheRS), which charges mt-tRNA Phe with phenylalanine for translation. Intramitochondrial translation of mtDNA-encoded proteins is essential for the biogenesis of four of the five multiprotein complexes that form the ATP-producing oxidative phosphorylation system (OXPHOS). Mitochondria contain their own translation system complete with a mitochondria-specific ribosome (mitoribosome) and translation factors that function like their cytosolic counterparts.
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