Screening of a novel hepatic syndrome and its uses

Details Screening of a novel hepatic syndrome and its uses Screening of a novel hepatic syndrome and its uses

2007-08-28

2007-08-28

Myers, Carla J. (Department: 1634)

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

Involving nucleic acid

C435S091200, C536S023500, C536S024310, C536S024330

Reexamination Certificate

active

10360705

ABSTRACT:
The invention concerns methods of screening for a hepatic syndrome occurring in the young adult and associating cholesterol biliary microlithiasis, intrahepatic cholestasis and several mutations of the MDR3 gene. The invention is also directed to methods for the treatment of said syndrome. The hepatic syndrome screening methods comprise detecting, from a nucleic acid sample extracted from peripheral blood mononucleate cells, heterozygous mutations of the MDR3 gene and/or homozygous mutations of the MDR3 gene that do not eliminate the expression of the protein expressed by the MDR3 gene, which has phosphatidylcholine carrier activity, in adult subjects associating cholesterol biliary microlithiasis and intrahepatic cholestasis.

REFERENCES:
Lincke et al. The Journal of Biological Chemistry. 1991. 266:5303-5310.
Jacquemin et al. Gastroenterology. May 2001. 120:1448-1458.
Rosmorduc et al. Journal of Hepatology. Apr. 2001. 34 (supplement 1) p. 188).
P. H. Dixon et al., “Heterozygous MDR3 Missense Mutation Associated With Intrahepatic Cholestasis of Pregnancy: Evidence for a Defect in Protein Trafficking”, Human Molecular Biology, vol. 9, No. 8, May 2000, pp. 1209-1217.
J. Marleen L. De Vree et al., “Mutations in theMDR3Gene Cause Progressive Familial Intrahepatic Cholestasis”, Proc. Natl. Acad. Sci. USA, vol. 95, Jan. 6, 1998, pp. 282-287.
Emmanuel Jacquemin et al., Heterozygous Non-Sense Mutation of the MDR3 Gene in Familial Intrahepatic Cholestasis of Pregnancy, vol. 353, Jan. 16, 1999, pp. 210-211.
Emmanuel Jacquemin et al., “Genetic Basis of Progressive Familial Intrahepatic Cholestasis”, Journal of Heptolgy, vol. 31, No. 2, Aug. 1999, pp. 377-381.
E. Jacquemin et al., MDR3 Deficiency in Patients with Progressive Familial Intrahepatic Cholestasis with High Serum Gamma-Glutamyl Transferase 8GGT) Activity (PFIC3), Journal of Pediatric Gastroenterolgy and Nutrition, vol. 31, Aug. 5-9, 2000, pp. 207 (abstract).
O. Rosmorduc et al., “MDR3 Gene Defect in Adults with Symptomatic Intrahepatic and Gallbladder Cholesterol Cholelithiasis”, Gastroenterolgy, vol. 120, Apr. 18, 2001, pp. 1459-1467.

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