Hastalık geni karakterizasyonu

Being sick is part of human life. Some disease can are common, while others are rare. There are more than 7000 rare diseases in present and is counting. Ciliopathies are one of the rare diseases. Ciliopathies are diseases caused by mutations that affect the function or structure of cilia. Cilia are organelles composed of many compartments that extend outward from the cell and affect some important signalling pathways, such as the Hedgehog signaling pathways. In 2014, the relationship between EFCAB7 and EVC-EVC2 proteins was discovered. Mutations in the EVC and EVC2 genes cause Ellis van Creveld disease. In 2023, it was found that it causes non-syndromic postaxial polydactyly. However, the relationship between EFCAB7 and cilia has not been sufficiently elucidated. In this study, it was investigated relationship between EFCAB7 and cilia using microscopic methods and functional assays. Our results indicated that cilia in efcab-7 mutants were significantly shorter than those in the wild type, whereas IFT velocity and particle number did not change noticeably. Moreover, ELMOD-3, which under normal conditions does not enter cilia, remained excluded in efcab-7 mutants and thus reported an intact ciliary gate. Unexpectedly, efcab-7 mutants also displayed attenuated motility and reduced axon number, suggesting an additional function of EFCAB7 in neuronal or muscle function. These findings expand the spectrum of EFCAB7 functions in maintaining ciliary and neuronal integrity and provide new insights into the pathogenesis of its associated rare diseases.