North American Indian childhood cirrhosis (NAIC) is a disease in humans that can affect
Ojibway-Cree children in northwestern
Quebec
Quebec ( ; )According to the Canadian government, ''Québec'' (with the acute accent) is the official name in Canadian French and ''Quebec'' (without the accent) is the province's official name in Canadian English is one of the thirtee ...
, Canada.
The disease is due to an
autosomal recessive abnormality of the ''
UTP4''
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
, which codes for cirhin.
NAIC is a
ribosomopathy.
An R565W
mutation
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA replication, DNA or viral repl ...
of ''UTP4''
leads to partial impairment of cirhin interaction with
NOL11.
Initial transient neonatal jaundice advances over time to
biliary cirrhosis with severe liver
fibrosis
Fibrosis, also known as fibrotic scarring, is a pathological wound healing in which connective tissue replaces normal parenchymal tissue to the extent that it goes unchecked, leading to considerable tissue remodelling and the formation of perma ...
.
Eventually,
liver failure occurs, and requires liver
transplantation.
See also
*
Indian childhood cirrhosis
Indian childhood cirrhosis is a chronic liver disease of childhood characterised by cirrhosis of the liver associated with the deposition of copper in the liver. It primarily affects children of 1–3 years of age and has a genetic predisposition. ...
References
North American Indian childhood cirrhosison Genetics Home Reference
{{reflist, refs=
←KEEP: This reference list is organized alphanumerically by arbitrary ref name-->
[{{cite journal , authors=Freed EF, Prieto JL, McCann KL, McStay B, Baserga SJ , title=NOL11, implicated in the pathogenesis of North American Indian childhood cirrhosis, is required for pre-rRNA transcription and processing , journal=PLOS Genet. , volume=8 , issue=8 , pages=e1002892 , year=2012 , pmid=22916032 , pmc=3420923 , doi=10.1371/journal.pgen.1002892 ]
[{{cite journal , authors=McCann KL, Baserga SJ , title=Genetics. Mysterious ribosomopathies , journal=Science , volume=341 , issue=6148 , pages=849–50 , year=2013 , pmid=23970686 , pmc=3893057 , doi=10.1126/science.1244156 ]
[{{OMIM, 604901]
[{{OMIM, 607456]
[{{cite journal , authors=Sondalle SB, Baserga SJ , title=Human diseases of the SSU processome , journal=Biochim. Biophys. Acta , volume=1842 , issue=6 , pages=758–64 , year=2014 , pmid=24240090 , doi=10.1016/j.bbadis.2013.11.004 , pmc=4058823]
Autosomal recessive disorders
Diseases of liver
Ribosomopathy