RGD Reference Report - Acute infantile liver failure due to mutations in the TRMU gene. - Rat Genome Database

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Acute infantile liver failure due to mutations in the TRMU gene.

Authors: Zeharia, Avraham  Shaag, Avraham  Pappo, Orit  Mager-Heckel, Anne-Marie  Saada, Ann  Beinat, Marine  Karicheva, Olga  Mandel, Hanna  Ofek, Noa  Segel, Reeval  Marom, Daphna  Rötig, Agnes  Tarassov, Ivan  Elpeleg, Orly 
Citation: Zeharia A, etal., Am J Hum Genet. 2009 Sep;85(3):401-7. doi: 10.1016/j.ajhg.2009.08.004.
RGD ID: 25440486
Pubmed: (View Article at PubMed) PMID:19732863
DOI: Full-text: DOI:10.1016/j.ajhg.2009.08.004

Acute liver failure in infancy accompanied by lactic acidemia was previously shown to result from mtDNA depletion. We report on 13 unrelated infants who presented with acute liver failure and lactic acidemia with normal mtDNA content. Four died during the acute episodes, and the survivors never had a recurrence. The longest follow-up period was 14 years. Using homozygosity mapping, we identified mutations in the TRMU gene, which encodes a mitochondria-specific tRNA-modifying enzyme, tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase. Accordingly, the 2-thiouridylation levels of the mitochondrial tRNAs were markedly reduced. Given that sulfur is a TRMU substrate and its availability is limited during the neonatal period, we propose that there is a window of time whereby patients with TRMU mutations are at increased risk of developing liver failure.


Disease Annotations    

Objects Annotated

Genes (Rattus norvegicus)
Trmu  (tRNA mitochondrial 2-thiouridylase)

Genes (Mus musculus)
Trmu  (tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase)

Genes (Homo sapiens)
TRMU  (tRNA mitochondrial 2-thiouridylase)

Additional Information