DIAGNOSIS AND THERAPY OF DISEASES RELATING TO A DISPROPORTION OF LUTEINIZING HORMONE/CHORIONIC GONADOTROPIN RECEPTOR (LHR; LHCGR) SPLICE VARIANTS

摘要

The present invention relates to a novel exon of the LHR, namely exon 6A, as well as to mutated forms thereof. Particularly, the present invention relates to a nucleotide sequence of exon 6A, to a nucleotide sequence comprising said nucleotide sequence of exon 6A, to a nucleotide sequence comprising a nucleotide sequence of a splice variant of LHR comprising exon 6A1 to variants or fragments of said nucleotide sequences, as well as to a vector comprising said nucleotide sequences. The present invention further relates to a polypeptide comprising an amino acid sequence encoded by exon 6A or encoded by a splice variant of LHR comprising exon 6A, as well as to variants and fragments of said amino acid sequence. Furthermore, the present invention relates to a host cell genetically engineered with a nucleotide sequence of the present invention or comprising the vector of the present invention. Additionally, the present invention relates to a pharmaceutical composition comprising an inhibitor of exon 6A of LHR. Furthermore, provided herein is a method of diagnosing a disease in a patient which is characterized by an increase of the amount of LHR mRNA comprising exon 6A, to a method for treating, ameliorating or preventing such a disease, as well as to a use of the nucleotide sequence, the vector, the polypeptide or the host cell as provided or the inhibitor of exon 6A as defined in the context of the invention for the preparation of a pharmaceutical composition for the treatment, amelioration or prevention of such a disease. The present invention also refers to a method for treating, ameliorating or preventing a disease which is characterized by an increase of the amount of LHR mRNA comprising exon 6A and to a use of the compounds of the invention and an inhibitor of exon 6A for the preparation of a pharmaceutical composition for the treatment, amelioration or prevention of such a disease.