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] 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
[edit]- ^ a b c Online Mendelian Inheritance in Man (OMIM): 604901
- ^ a b Online Mendelian Inheritance in Man (OMIM): 607456
- ^ 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.
- ^ McCann KL, Baserga SJ (2013). "Genetics. Mysterious ribosomopathies". Science. 341 (6148): 849–50. doi:10.1126/science.1244156. PMC 3893057. PMID 23970686.
- ^ 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.
- ^ a b 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.
- North American Indian childhood cirrhosis on Genetics Home Reference