Disease relevance of CIRH1A

• North American Indian childhood cirrhosis (CIRH1A, or NAIC), a severe autosomal recessive intrahepatic cholestasis described in Ojibway-Cree children from northwestern Quebec, is one of several familial cholestases with unknown molecular etiology [1].
• Pancreatic tissue obtained from 26 patients with alcoholic chronic pancreatitis (ACP), nine patients with nonalcoholic idiopathic chronic pancreatitis (NAICP), and seven patients with obstructive chronic pancreatitis (OCP) was studied in an attempt to determine whether clinical or etiologic differences have a morphologic counterpart [2].

High impact information on CIRH1A

• A missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosis [1].
• We previously identified the NAIC locus by homozygosity mapping to chromosome 16q22 [1].
• Cirhin is preferentially expressed in embryonic liver, is predicted to localize to mitochondria, and contains WD repeats, which are structural motifs frequently associated with molecular scaffolds [1].
• Inflammatory foci of lymphocytes associated with nerves were observed in 57 and 35% of cases with OCP and ACP, respectively, but only in one patient with NAICP [2].
• In women with a normal menstrual cycle, the erythrocyte sodium concentration (Naic) and the ouabain-insensitive total potassium efflux were lower in the luteal than in the follicular phase [3].

References