Biology:North American Indian childhood cirrhosis
From HandWiki
Short description: A genetic pediatric liver disease
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
- ↑ 1.0 1.1 1.2 Online Mendelian Inheritance in Man (OMIM) 604901
- ↑ 2.0 2.1 Online Mendelian Inheritance in Man (OMIM) 607456
- ↑ "La cirrhose amérindienne infantile [North American Indian childhood cirrhosis (NAIC)]" (in fr). Medicine/Sciences 23 (11): 1002–1007. 2007. doi:10.1051/medsci/200723111002. PMID 18021715.
- ↑ "Genetics. Mysterious ribosomopathies". Science 341 (6148): 849–50. 2013. doi:10.1126/science.1244156. PMID 23970686.
- ↑ "Human diseases of the SSU processome". Biochim. Biophys. Acta 1842 (6): 758–64. 2014. doi:10.1016/j.bbadis.2013.11.004. PMID 24240090.
- ↑ 6.0 6.1 "NOL11, implicated in the pathogenesis of North American Indian childhood cirrhosis, is required for pre-rRNA transcription and processing". PLOS Genet. 8 (8): e1002892. 2012. doi:10.1371/journal.pgen.1002892. PMID 22916032.
- North American Indian childhood cirrhosis on Genetics Home Reference
 |  |
