NOVEL RETINA SPECIFIC HUMAN PROTEINS WDR17, NET01, PROTEIN KINASE A203, PROTEIN KINASE MAK A194, PROTEIN A105, PROTEIN A106 AND C12ORF3VARIANTS

摘要

The present invention relates to nucleic acid molecules coding for proteins, isoforms of said proteins or mutant forms of said proteins whereby the level of expression of said proteins is connected with retinal diseases. Assessment of the expression level of proteins encoded by said nucleic acid molecules or corresponding mRNAs may be used for testing the predisposition of mammals and preferably humans of a retinal disease or for an acute state of such a disease. Preferred diseases in accordance with the invention are macular degeneration and more preferably AMD. The present invention further relates to methods of identifying compounds capable of normalizing the expression level of the aforementioned genes and of further genes affected by the abnormal expression. The identified compounds may be used for formulating compositions, preferably pharmaceutical compositions for preventing or treating retinal diseases. They may also be used as lead compounds for the development of medicaments having an improved efficiency, a longer half-life, a decreased toxicity etc. and to be employed in the treatment of retinal diseases. Included in the invention are also somatic gene therapy methods comprising the introduction of at least one functional copy of any of the above-mentioned genes into a suitable cell. Finally, the invention relates to non-human transgenic animals comprising at least one of the aforementioned genes in their germ line. The transgenic animals of the invention may be used for the development of medicaments for the treatment of retinal diseases. Finally, the present invention relates to diagnostic kits useful in the diagnosis of the aforementioned diseases.