![]() 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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