Emergence of Hepatitis C Virus Genotype Recombinant Forms 2k/1b in Georgia.

Background: Hepatitis C virus (HCV) evolution is thought to proceed by mutations within the six major genotypes. Studies of HCV recombinant genotypes in different parts of the world have recently been initiated. Only a few cases of recombination have been identified worldwide, predominantly in Eastern Europe and Asia.

The histidine-loop is essential for transport activity of human MDR3. A novel mutation of MDR3 in a patient with progressive familial intrahepatic cholestasis type 3.

Experimental evidence has been provided that a histidine-loop within the nucleotide binding domain of ABC transporter is essential for efficient function of this class of transporter proteins. Here we report the first patient with a mutation of the putative histidine-loop of a human ABC transporter, the multi drug resistance protein 3 (MDR3). The patient presented at the age of 4 years with a history of severe pruritus, elevated serum gamma-glutamyltransferase and bile acid levels since several years suggesting the diagnosis of progressive familial intrahepatic cholestasis type 3 (PFIC-3) due to defects in MDR3.