North American Indian childhood cirrhosis

North American Indian childhood cirrhosis (NAIC) is a disease in humans that can affect Ojibway-Cree children in northwestern Quebec, Canada.[1] The disease is due to an autosomal recessive abnormality of the UTP4 gene, which codes for cirhin.[2]

NAIC is a ribosomopathy.[3][4] An R565W mutation of UTP4[2][5] leads to partial impairment of cirhin interaction with NOL11.[5]

Initial transient neonatal jaundice advances over time to biliary cirrhosis with severe liver fibrosis.[1] Eventually, liver failure occurs, and requires liver transplantation.[1]

See also

References
  1. Online Mendelian Inheritance in Man (OMIM): 604901
  2. Online Mendelian Inheritance in Man (OMIM): 607456
  3. McCann KL, Baserga SJ (2013). "Genetics. Mysterious ribosomopathies". Science. 341 (6148): 849–50. doi:10.1126/science.1244156. PMC 3893057. PMID 23970686.
  4. Sondalle SB, Baserga SJ (2014). "Human diseases of the SSU processome". Biochim. Biophys. Acta. 1842 (6): 758–64. doi:10.1016/j.bbadis.2013.11.004. PMC 4058823. PMID 24240090.
  5. Freed EF, Prieto JL, McCann KL, McStay B, Baserga SJ (2012). "NOL11, implicated in the pathogenesis of North American Indian childhood cirrhosis, is required for pre-rRNA transcription and processing". PLOS Genet. 8 (8): e1002892. doi:10.1371/journal.pgen.1002892. PMC 3420923. PMID 22916032.
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