Progressive Familial Intrahepatic Cholestasis Type 2 (PFIC2) in Children with ABCB11 Gene Mutations and Bile Salt Export Pump Dysfunction,
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- Category: Vol. 84, March 2016
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Progressive Familial Intrahepatic Cholestasis Type 2 (PFIC2) in Children with ABCB11 Gene Mutations and Bile Salt Export Pump Dysfunction, MARIANNE S. MAKBOOL, HANAA M. EL-KARAKSY, AMAAL A. ABD EL-AAL and NORA M. SELIM
Abstract
Background: Progressive Familial Intrahepatic Cholestasis type 2 (PFIC2) is a rare inherited disease due to mutations in ABCB11 encoding the canalicular Bile Salt Export Pump (BSEP) of hepatocyte which is the major transporter respon-sible for bile acid excretion. Impaired biliary excretion leads to bile salt accumulation in hepatocytes, ongoing hepatocellular damage and increased risk of hepatocellular carcinoma.
Aim of Work: To detect mutations in Exon 8 of ABCB 11 gene in patients with suspected PFIC2 among the selected group of Egyptian population to confirm diagnosis of PFIC2 and to detect mutations that impair BSEP protein function and bile acid excretion.
Patients and Methods: Thirty three subjects were enrolled in this study including 11 suspected PFIC2 patients and 22 healthy control subjects. ABCB 11 genotyping was performed by DNA extraction followed by PCR amplification, purification then sequencing of Exon 8 of the gene.
Results: No mutations or variations in sequence results involving Exon 8 of the ABCB 11 gene of studied Egyptian populations were detected.
Conclusion: This work detected no mutations or variations involving Exon 8 ofABCB 11 gene in studied Egyptian patients with suspected PFIC2 as a cause of severe BSEP deficiency, so further investigations of other exons of the gene are nec-essary to confirm diagnosis of PFIC2.