Evaluation of SFRP1 as a candidate for human retinal dystrophies

[摘要] Purpose: Secreted Frizzled Related Proteins (SFRPs) are solublemolecules capable of modulating Wnt signalling. Different lines ofevidence indicate that SFRP activity is related with the development andfunction of the retina photoreceptor cells as well as with theirapoptotic degeneration associated with the onset of different cases ofretinal dystrophy (RD). Because the genetic causes of many retinaldystrophies still need to be determined, we have asked whether mutationsin the SFRP genes might be associated with retinal dystrophies.Methods: Here we describe the genomic structure of SFRP1, SFRP2, andSFRP5 and a mutational screening of SFRP1 in 325 individuals affected byvarious non X-linked forms of inherited retinal disorders.Results: Three polymorphic variants were identified.Conclusions: Our data, so far, exclude SFRP1 as a molecular cause ofRD, since two out of three genetic variants of the gene were present inboth RD patients and normal population.

[学科分类] 生物化学/生物物理