TY - JOUR
T1 - Lack of delta-sarcoglycan (Sgcd) results in retinal degeneration
AU - Perez-Ortiz, Andric C.
AU - Peralta-Ildefonso, Martha J.
AU - Lira-Romero, Esmeralda
AU - Moya-Albor, Ernesto
AU - Brieva, Jorge
AU - Ramirez-Sanchez, Israel
AU - Clapp, Carmen
AU - Luna-Angulo, Alexandra
AU - Rendon, Alvaro
AU - Adan-Castro, Elva
AU - Ramírez-Hernández, Gabriela
AU - Díaz-Lezama, Nundehui
AU - Coral-Vázquez, Ramón M.
AU - Estrada-Mena, Francisco J.
N1 - Publisher Copyright:
© 2019 by the authors. Licensee MDPI, Basel, Switzerland.
PY - 2019/11/1
Y1 - 2019/11/1
N2 - 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 δ-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 (α-, β-, γ-, and ε-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 α 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.
AB - 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 δ-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 (α-, β-, γ-, and ε-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 α 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.
KW - Age-related macular degeneration
KW - Delta-sarcoglycan
KW - Dystrophin-associated protein complex
KW - Geographic atrophy
KW - Knock-out mice
KW - Retinal degeneration
UR - http://www.scopus.com/inward/record.url?scp=85074513789&partnerID=8YFLogxK
U2 - 10.3390/ijms20215480
DO - 10.3390/ijms20215480
M3 - Artículo
C2 - 31689918
AN - SCOPUS:85074513789
SN - 1661-6596
VL - 20
JO - International Journal of Molecular Sciences
JF - International Journal of Molecular Sciences
IS - 21
M1 - 5480
ER -