Leading article
The molecular genetics of familial intrahepatic cholestasis
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Introduction |
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There is a growing list of genetic diseases caused by defects of one of the members of the ATP binding cassette (ABC) transporter superfamily.1 ABC transporters mediate the energy dependent transport of peptides, steroid hormones, and drugs and their metabolites across membranes, not only in mammals but also in fish, bacteria, worms, and even plants. ABC transporters are important in almost every human cell or organ and therefore the spectrum of diseases caused by defects of these proteins is diverse and includes: liver diseases (progressive familial intrahepatic cholestasis,2 cystic fibrosis,3 Zellweger syndrome,4 adrenoleuko- dystrophy,5 and Dubin-Johnson syndrome6); eye disorders (Stargardt disease,7 autosomal recessive retinitis pigmentosa,8 and cone-rod dystrophy9); disorders of cholesterol metabolism (familial HDL deficiency10 and Tangier disease10); and diseases of carbohydrate metabolism (familial persistent hyperinsulinaemic hypoglycaemia of infancy11).
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Progressive familial intrahepatic cholestasis type 1 |
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Progressive familial intrahepatic cholestasis (PFIC) belongs to a
group of autosomal recessive diseases characterised by
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