Communications Biology (Dec 2021)
AMPK modulation ameliorates dominant disease phenotypes of CTRP5 variant in retinal degeneration
- Kiyoharu J. Miyagishima,
- Ruchi Sharma,
- Malika Nimmagadda,
- Katharina Clore-Gronenborn,
- Zoya Qureshy,
- Davide Ortolan,
- Devika Bose,
- Mitra Farnoodian,
- Congxiao Zhang,
- Andrew Fausey,
- Yuri V. Sergeev,
- Mones Abu-Asab,
- Bokkyoo Jun,
- Khanh V. Do,
- Marie-Audrey Kautzman Guerin,
- Jorgelina Calandria,
- Aman George,
- Bin Guan,
- Qin Wan,
- Rachel C. Sharp,
- Catherine Cukras,
- Paul A. Sieving,
- Robert B. Hufnagel,
- Nicolas G. Bazan,
- Kathleen Boesze-Battaglia,
- Sheldon Miller,
- Kapil Bharti
Affiliations
- Kiyoharu J. Miyagishima
- Section on Epithelial and Retinal Physiology and Disease, NEI, NIH
- Ruchi Sharma
- Ocular and Stem Cell Translational Research Section, NEI, NIH
- Malika Nimmagadda
- Ocular and Stem Cell Translational Research Section, NEI, NIH
- Katharina Clore-Gronenborn
- Ocular and Stem Cell Translational Research Section, NEI, NIH
- Zoya Qureshy
- Ocular and Stem Cell Translational Research Section, NEI, NIH
- Davide Ortolan
- Ocular and Stem Cell Translational Research Section, NEI, NIH
- Devika Bose
- Ocular and Stem Cell Translational Research Section, NEI, NIH
- Mitra Farnoodian
- Ocular and Stem Cell Translational Research Section, NEI, NIH
- Congxiao Zhang
- Section on Epithelial and Retinal Physiology and Disease, NEI, NIH
- Andrew Fausey
- Ocular and Stem Cell Translational Research Section, NEI, NIH
- Yuri V. Sergeev
- Ophthalmic Genetics and Visual Function Branch, National Eye Institute, NIH
- Mones Abu-Asab
- Section of Histopathology, National Eye Institute, NIH
- Bokkyoo Jun
- Neuroscience Center of Excellence, Louisiana State University Health
- Khanh V. Do
- Neuroscience Center of Excellence, Louisiana State University Health
- Marie-Audrey Kautzman Guerin
- Neuroscience Center of Excellence, Louisiana State University Health
- Jorgelina Calandria
- Neuroscience Center of Excellence, Louisiana State University Health
- Aman George
- Ophthalmic Genetics and Visual Function Branch, National Eye Institute, NIH
- Bin Guan
- Medical Genetics and Ophthalmic Genomics Unit, NEI, NIH
- Qin Wan
- Section on Epithelial and Retinal Physiology and Disease, NEI, NIH
- Rachel C. Sharp
- Department of Biochemistry University of Pennsylvania
- Catherine Cukras
- Division of Epidemiology and Clinical Applications and Ophthalmic Genetics and Visual Function Branch, NEI, NIH
- Paul A. Sieving
- Section for Translation Research in Retinal and Macular Degeneration, NEI, NIH
- Robert B. Hufnagel
- Medical Genetics and Ophthalmic Genomics Unit, NEI, NIH
- Nicolas G. Bazan
- Neuroscience Center of Excellence, Louisiana State University Health
- Kathleen Boesze-Battaglia
- Department of Biochemistry University of Pennsylvania
- Sheldon Miller
- Section on Epithelial and Retinal Physiology and Disease, NEI, NIH
- Kapil Bharti
- Ocular and Stem Cell Translational Research Section, NEI, NIH
- DOI
- https://doi.org/10.1038/s42003-021-02872-x
- Journal volume & issue
-
Vol. 4,
no. 1
pp. 1 – 16
Abstract
Miyagishima et al. investigate the pathological mechanisms underlying mutant CTRP5 function in late-onset retinal degeneration (L-ORD). With human iPSC-derived RPE cells, they demonstrate that in L-ORD iRPE, constitutive activation of AMPK disrupts cellular metabolism/energy homoeostasis, changes apical/basal VEGF secretion, and Metformin treatment corrects these associated phenotypes.
