North American Indian childhood cirrhosis

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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] a nucleolar protein. [3]

NAIC is a ribosomopathy. [4] [5] An R565W mutation of UTP4 [2] [6] leads to partial impairment of cirhin interaction with NOL11. [6]

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

References

  1. 1 2 3 Online Mendelian Inheritance in Man (OMIM): 604901
  2. 1 2 Online Mendelian Inheritance in Man (OMIM): 607456
  3. ↑ Richter A, Mitchell GA, Rasquin A (2007). "La cirrhose amérindienne infantile [North American Indian childhood cirrhosis (NAIC)]". Medicine/Sciences (in French). 23 (11): 1002–1007. doi: 10.1051/medsci/200723111002 . PMID   18021715. S2CID   86659393.
  4. ↑ McCann KL, Baserga SJ (2013). "Genetics. Mysterious ribosomopathies". Science. 341 (6148): 849–50. doi:10.1126/science.1244156. PMC   3893057 . PMID   23970686.
  5. ↑ 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.
  6. 1 2 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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