The AKT2/SIRT5/TFEB pathway as a potential therapeutic target in non-neovascular AMD

Sayan Ghosh, Ruchi Sharma, Sridhar Bammidi, Victoria Koontz, Mihir Nemani, Meysam Yazdankhah, Katarzyna M. Kedziora, Donna Beer Stolz, Callen T. Wallace, Cheng Yu-Wei, Jonathan Franks, Devika Bose, Peng Shang, Helena M. Ambrosino, James R. Dutton, Zhaohui Geng, Jair Montford, Jiwon Ryu, Dhivyaa Rajasundaram, Stacey HoseJosé Alain Sahel, Rosa Puertollano, Toren Finkel, J. Samuel Zigler, Yuri Sergeev, Simon C. Watkins, Eric S. Goetzman, Deborah A. Ferrington, Miguel Flores-Bellver, Kai Kaarniranta, Akrit Sodhi, Kapil Bharti, James T. Handa, Debasish Sinha

Research output: Contribution to journalArticlepeer-review

Abstract

Non-neovascular or dry age-related macular degeneration (AMD) is a multi-factorial disease with degeneration of the aging retinal-pigmented epithelium (RPE). Lysosomes play a crucial role in RPE health via phagocytosis and autophagy, which are regulated by transcription factor EB/E3 (TFEB/E3). Here, we find that increased AKT2 inhibits PGC-1α to downregulate SIRT5, which we identify as an AKT2 binding partner. Crosstalk between SIRT5 and AKT2 facilitates TFEB-dependent lysosomal function in the RPE. AKT2/SIRT5/TFEB pathway inhibition in the RPE induced lysosome/autophagy signaling abnormalities, disrupted mitochondrial function and induced release of debris contributing to drusen. Accordingly, AKT2 overexpression in the RPE caused a dry AMD-like phenotype in aging Akt2 KI mice, as evident from decline in retinal function. Importantly, we show that induced pluripotent stem cell-derived RPE encoding the major risk variant associated with AMD (complement factor H; CFH Y402H) express increased AKT2, impairing TFEB/TFE3-dependent lysosomal function. Collectively, these findings suggest that targeting the AKT2/SIRT5/TFEB pathway may be an effective therapy to delay the progression of dry AMD.

Original languageEnglish (US)
Article number6150
JournalNature communications
Volume15
Issue number1
DOIs
StatePublished - Dec 2024

ASJC Scopus subject areas

  • General Chemistry
  • General Biochemistry, Genetics and Molecular Biology
  • General Physics and Astronomy

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