| First Author | Perez-Ortiz AC | Year | 2019 |
| Journal | Int J Mol Sci | Volume | 20 |
| Issue | 21 | PubMed ID | 31689918 |
| Mgi Jnum | J:289059 | Mgi Id | MGI:6435442 |
| Doi | 10.3390/ijms20215480 | Citation | Perez-Ortiz AC, et al. (2019) Lack of Delta-Sarcoglycan (Sgcd) Results in Retinal Degeneration. Int J Mol Sci 20(21):5480 |
| abstractText | Age-related macular degeneration (AMD) is the leading cause of central vision loss and severe blindness among the elderly population. Recently, we reported on the association of the SGCD gene (encoding for delta-sarcoglycan) polymorphisms with AMD. However, the functional consequence of Sgcd alterations in retinal degeneration is not known. Herein, we characterized changes in the retina of the Sgcd knocked-out mouse (KO, Sgcd(-/-)). At baseline, we analyzed the retina structure of three-month-old wild-type (WT, Sgcd(+/+)) and Sgcd(-/-) mice by hematoxylin and eosin (H&E) staining, assessed the Sgcd-protein complex (alpha-, beta-, gamma-, and epsilon-sarcoglycan, and sarcospan) by immunofluorescence (IF) and Western blot (WB), and performed electroretinography. Compared to the WT, Sgcd(-/-) mice are five times more likely to have retinal ruptures. Additionally, all the retinal layers are significantly thinner, more so in the inner plexiform layer (IPL). In addition, the number of nuclei in the KO versus the WT is ever so slightly increased. WT mice express Sgcd-protein partners in specific retinal layers, and as expected, KO mice have decreased or no protein expression, with a significant increase in the alpha subunit. At three months of age, there were no significant differences in the scotopic electroretinographic responses, regarding both a- and b-waves. According to our data, Sgcd(-/-) has a phenotype that is compatible with retinal degeneration. |
