Pgxhealth, LLC

Epidauros Biotechnologie Ag

Regina Eiselt

Leszek Wojnowski

Klaus Gellner

Described are general means and methods of diagnosing and treating the phenotypic spectrum as well as the overlapping clinical characteristics with several forms of inherited abnormal expression and/or function of the CYP3A4 and CYP3A7 genes. In particular, polynucleotides of molecular variant CYP3A4 and CYP3A7 genes which, for example, are associated with insufficient metabolization and/or sensitivity of drugs, and vectors comprising such polynucleotides are provided. Furthermore, host cells comprising such polynucleotides or vectors and their use for the production of variant CYP3A4 and CYP3A7 proteins are described. In addition, variant CYP3A4 and CYP3A7 proteins and antibodies specifically recognizing such proteins as well as transgenic non-human animals comprising the above-described polynucleotide or vectors are provided. Described are also methods for identifying and obtaining inhibitors for therapy of disorders related to the malfunction of the CYP3A4 and CYP3A7 genes as well as methods of diagnosing the status of such disorders. Pharmaceutical and diagnostic compositions comprising the above-described polynucleotides, vectors, proteins, antibodies and inhibitors by the above-described method are provided. Said compositions are particularly useful for diagnosing and treating various diseases with drugs that are substrates, inhibitors or modulators of the CYP3A4 or CYP3A7 gene product.

Polymorphisms in the human cyp3a4 and cyp3a7 genes and their use in diagnostic and therapeutic applications

The present invention relates to polynucleotides encoding the CYP3AX protein and variants thereof. Further, the present invention also provides vectors comprising said polynucleotides, in particular vectors, wherein polynucleotides of the present invention are operatively linked to regulatory elements allowing expression in prokaryotic and/or eukaryotic host cells. In addition, the present invention relates to proteins encoded by said polynucleotides and antibodies specifically recognizing such proteins. The present invention also concerns transgenic non-human animals comprising the above-described polynucleotide or vectors. Moreover, the present invention relates to methods for identifying and obtaining drug candidates and inhibitors for therapy of disorders related to the malfunction of the CYP3AX genes as well as to methods of diagnosing the status of such disorders. The present invention also relates to methods for the identification of molecular variants of the CYP3AX polynucleotide or protein. The present invention furthermore provides pharmaceutical and diagnostic compositions comprising the above-described polynucleotides, vectors, proteins, antibodies, drugs and inhibitors obtainable by the above-described method. Said compositions are particularly useful for diagnosing and treating various diseases with drugs that are substrates, inhibitors or modulators of CYP3AX genes or their product.

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Eurasburg, Germany

Regina Eiselt