Dominik Lewandowski, Fangyuan Gao, Sanae Imanishi, Aleksander Tworak, Marco Bassetto, Zhiqian Dong, Antonio F M Pinto, Marcin Tabaka, Philip D Kiser, Yoshikazu Imanishi, Dorota Skowronska-Krawczyk, Krzysztof Palczewski
Mutations in the adiponectin receptor 1 gene (AdipoR1) lead to retinitis pigmentosa and are associated with age-related macular degeneration (AMD). This study explores the effects of AdipoR1 gene deficiency in mice, revealing a striking decline in ω3 polyunsaturated fatty acids (PUFA), an increase in ω6 FAs, and elevated ceramides in the retina. The AdipoR1 deficiency impairs peroxisome proliferator-activated receptor α (PPARα) signaling, which is crucial for FA metabolism, particularly affecting proteins associated with FA transport and oxidation in the retina and retinal pigmented epithelium (RPE)...
April 16, 2024: Journal of Biological Chemistry