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Literature summary for 2.7.7.72 extracted from

  • Sasarman, F.; Thiffault, I.; Weraarpachai, W.; Salomon, S.; Maftei, C.; Gauthier, J.; Ellazam, B.; Webb, N.; Antonicka, H.; Janer, A.; Brunel-Guitton, C.; Elpeleg, O.; Mitchell, G.; Shoubridge, E.A.
    The 3 addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1 (2015), Hum. Mol. Genet., 24, 2841-2847.
    View publication on PubMedView publication on EuropePMC
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Application

Application Comment Organism
medicine the clinical phenotypes associated with TRNT1 mutations are largely due to impaired mitochondrial translation, resulting from defective CCA addition to mitochondrial tRNASer(AGY), and the severity of this biochemical phenotype determines the severity and tissue distribution of clinical features. TRNT1 mutations A148V and.D128G/Y173F are identified in two unrelated subjects with different clinical features. The first presented with acute lactic acidosis at 3 weeks of age and developed severe developmental delay, hypotonia, microcephaly, seizures, progressive cortical atrophy, neurosensorial deafness, sideroblastic anemia and renal Fanconi syndrome, dying at 21 months. The second presented at 3.5 years with gait ataxia, dysarthria, gross motor regression, hypotonia, ptosis and ophthalmoplegia and had abnormal signals in brainstem and dentate nucleus. In subject 1, muscle biopsy showed combined oxidative phosphorylation defects, but there was no oxidative phosphorylation deficiency in fibroblasts from either subject, despite a 10fold reduction in TRNT1 protein levels in fibroblasts of the first subject. In normal controls, TRNT1 protein levels are 10fold lower in muscle than in fibroblasts Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
mitochondrion
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 Homo sapiens 5739
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Organism

Organism UniProt Comment Textmining
Homo sapiens Q96Q11
-
-

Source Tissue

Source Tissue Comment Organism Textmining
fibroblast TRNT1 protein levels are 10fold lower in muscle than in fibroblasts Homo sapiens
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muscle TRNT1 protein levels are 10fold lower in muscle than in fibroblasts Homo sapiens
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Synonyms

Synonyms Comment Organism
TRNT1
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 Homo sapiens